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
ALK	238	broad.mit.edu	37	2	29455309	29455309	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:29455309C>T	ENST00000389048.3	-	15	3399	c.2493G>A	c.(2491-2493)aaG>aaA	p.K831K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	831	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCACTCCATCCTTCATCTGAC	0.567000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	31					0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100207779	100207779	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:100207779G>A	ENST00000414213.1	-	5	985	c.384C>T	c.(382-384)gtC>gtT	p.V128V	FRRS1_ENST00000287474.5_Silent_p.V128V			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	128	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CATTCCAGTAGACTTTAATTT	0.418000													5	40					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127448572	127448572	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:127448572T>C	ENST00000262461.2	+	2	1012	c.823T>C	c.(823-825)Tat>Cat	p.Y275H	SLC12A2_ENST00000343225.4_Missense_Mutation_p.Y275H	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	275					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGTGGTCACGTATACTGCAGA	0.368000													19	61					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44148369	44148369	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:44148369C>T	ENST00000398776.1	+	16	1754	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	CAPN11_ENST00000542245.1_Silent_p.F572F	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	572	Domain IV.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCAGGACTTCCTACATTTGT	0.597000													12	64					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73913921	73913921	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:73913921C>T	ENST00000586717.1	-	22	2628	c.2355G>A	c.(2353-2355)gaG>gaA	p.E785E	FBF1_ENST00000319129.5_Silent_p.E784E|FBF1_ENST00000389570.4_Silent_p.E785E			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	784										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGCCCAGCCGCTCCTGCAGTG	0.697000													7	12					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912076	150912076	+	Silent	SNP	C	C	T	rs141471697		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:150912076C>T	ENST00000329903.4	+	6	1134	c.1101C>T	c.(1099-1101)atC>atT	p.I367I		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	367					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCACCATCGTGGGAAATG	0.512000													18	89					0	0	1	0	0
GPC1	2817	broad.mit.edu	37	2	241405651	241405651	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:241405651C>T	ENST00000264039.2	+	9	1869	c.1621C>T	c.(1621-1623)Ctc>Ttc	p.L541F	GPC1_ENST00000466624.1_3'UTR	NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	541					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CCCGACCTTCCTCCTGCCCCT	0.677000													23	43					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													7	127					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130411075	130411075	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:130411075C>T	ENST00000370904.1	-	20	3329	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	IGSF1_ENST00000370903.3_Missense_Mutation_p.E821K|IGSF1_ENST00000370910.1_Missense_Mutation_p.E807K|IGSF1_ENST00000361420.3_Missense_Mutation_p.E816K|IGSF1_ENST00000467244.1_5'UTR			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	816	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GATGCTATTTCACTTCCATCT	0.532000													96	210					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159898630	159898630	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:159898630C>T	ENST00000368094.1	-	19	2745	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	IGSF9_ENST00000361509.3_Missense_Mutation_p.D834N|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	850	Pro-rich.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGCGCCCGTCTGGGCCCCGG	0.697000													4	13					0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91498054	91498054	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:91498054G>A	ENST00000266718.4	-	3	1359	c.905C>T	c.(904-906)tCc>tTc	p.S302F	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	302					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CTTGGAGTAGGATAATGGCCC	0.388000													5	33					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998063	27998063	+	Missense_Mutation	SNP	G	G	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:27998063G>C	ENST00000441525.1	-	1	1503	c.1389C>G	c.(1387-1389)ttC>ttG	p.F463L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	463										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCTCCCAGAAGAAGACGTGCC	0.473000													7	27					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107802340	107802340	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:107802340G>A	ENST00000328300.6	+	3	432	c.188G>A	c.(187-189)gGa>gAa	p.G63E	COL4A5_ENST00000361603.2_Missense_Mutation_p.G63E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	63	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGATTGCCTGGATTTCCAGGT	0.468000									Alport syndrome with Diffuse Leiomyomatosis				28	59					0	0	1	0	0
C8orf22	492307	broad.mit.edu	37	8	49986799	49986799	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:49986799C>T	ENST00000303202.8	+	4	313	c.140C>T	c.(139-141)cCt>cTt	p.P47L	C8orf22_ENST00000522267.1_Missense_Mutation_p.P47L|C8orf22_ENST00000517663.1_Missense_Mutation_p.P47L|C8orf22_ENST00000399653.4_Missense_Mutation_p.P47L	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	47										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATAGGGTTGCCTGAAGTGGCA	0.333000													7	23					0	0	1	0	0
FYTTD1	84248	broad.mit.edu	37	3	197505301	197505301	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr3:197505301C>T	ENST00000428395.2	+	9	984	c.551C>T	c.(550-552)cCc>cTc	p.P184L	FYTTD1_ENST00000424384.2_Missense_Mutation_p.P208L|FYTTD1_ENST00000492360.1_3'UTR|FYTTD1_ENST00000241502.3_Missense_Mutation_p.P275L|FYTTD1_ENST00000415708.2_Missense_Mutation_p.P249L	NM_001011537.2	NP_001011537.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	275					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	p.P275L(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		AAAGGTGTTCCCCTGCAGTTT	0.358000													9	22					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65890259	65890259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:65890259C>T	ENST00000321892.4	+	9	2960	c.2899C>T	c.(2899-2901)Cga>Tga	p.R967*	BPTF_ENST00000306378.6_Nonsense_Mutation_p.R841*|BPTF_ENST00000335221.5_Nonsense_Mutation_p.R967*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.R828*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	967					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCAATATGGCGAGAATCTTT	0.383000													21	119					0	0	1	0	0
PDGFB	5155	broad.mit.edu	37	22	39626234	39626234	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr22:39626234C>T	ENST00000331163.6	-	5	1244		c.e5-1		PDGFB_ENST00000381551.4_Splice_Site	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide						activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	TCTTTCTCACCTGGAGGACAG	0.582000			T	COL1A1	DFSP								17	46					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14941890	14941890	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:14941890G>A	ENST00000261167.2	-	11	1720	c.1487C>T	c.(1486-1488)cCt>cTt	p.P496L	WBP11_ENST00000537574.1_Missense_Mutation_p.P462L	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	496	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						ATCACCTGGAGGTGCAGGGGG	0.527000													3	10					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213466	9213466	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:9213466T>C	ENST00000305456.2	-	1	516	c.517A>G	c.(517-519)Agt>Ggt	p.S173G		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TTCACAACACTAGTCAACAGA	0.522000													18	26					0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27697463	27697463	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:27697463C>T	ENST00000270879.4	-	6	399	c.393_splice	c.e6-1	p.V132_splice	FCN3_ENST00000354982.2_Splice_Site_p.V121_splice	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	132	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGAAACACCTGGGGGAGG	0.572000													8	79					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84284813	84284813	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:84284813C>T	ENST00000428679.2	-	26	2951	c.2358G>A	c.(2356-2358)gaG>gaA	p.E786E	SNAP91_ENST00000521485.1_Silent_p.E781E|SNAP91_ENST00000520213.1_Silent_p.E479E|SNAP91_ENST00000520302.1_Silent_p.E756E|SNAP91_ENST00000437520.1_Silent_p.E479E|SNAP91_ENST00000369694.2_Silent_p.E786E|SNAP91_ENST00000521743.1_Silent_p.E786E|SNAP91_ENST00000195649.6_Silent_p.E781E|SNAP91_ENST00000439399.2_Silent_p.E786E			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	786					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TCAACTTTTTCTCTCCAGCAT	0.443000													3	6					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061796	9061796	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:9061796C>T	ENST00000397910.4	-	3	25853	c.25650G>A	c.(25648-25650)ccG>ccA	p.P8550P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8552	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGAAGGCTCGGCCATGGCA	0.498000													21	30					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628422	46628422	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:46628422C>T	ENST00000470495.1	-	2	2017	c.570G>A	c.(568-570)cgG>cgA	p.R190R	HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Silent_p.R56R|HOXB3_ENST00000485909.2_Silent_p.R58R|HOXB3_ENST00000489475.1_Silent_p.R117R|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Silent_p.R190R|HOXB3_ENST00000476342.1_Silent_p.R190R|HOXB3_ENST00000472863.1_Silent_p.R117R|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000311626.4_Silent_p.R190R|HOXB3_ENST00000460160.1_Silent_p.R58R			P14651	HXB3_HUMAN	homeobox B3	190					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R190R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CCGTCCGCGCCCGCTTGGACG	0.741000													28	49					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32835893	32835893	+	Silent	SNP	C	C	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr13:32835893C>G	ENST00000380250.3	+	52	8053	c.7557C>G	c.(7555-7557)tcC>tcG	p.S2519S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGAGGACTCCGATGAATCAT	0.522000													5	40					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567300	223567300	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:223567300C>T	ENST00000366875.3	+	1	586	c.483C>T	c.(481-483)ttC>ttT	p.F161F		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	161										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GTGGCACATTCAGGGTAGAAA	0.667000													5	24					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105974130	105974130	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:105974130C>T	ENST00000357060.3	-	4	586	c.471G>A	c.(469-471)gtG>gtA	p.V157V	WDR96_ENST00000369720.1_Silent_p.V87V|WDR96_ENST00000428666.1_Silent_p.V157V|WDR96_ENST00000278064.2_Silent_p.V87V|WDR96_ENST00000369719.1_Silent_p.V87V	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	157										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACATTTGGTTCACATCCATTC	0.398000													34	36					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46847621	46847621	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:46847621C>T	ENST00000283296.7	-	9	1258	c.970G>A	c.(970-972)Gca>Aca	p.A324T	GPR116_ENST00000265417.7_Missense_Mutation_p.A324T|GPR116_ENST00000362015.4_Missense_Mutation_p.A324T|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	324	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A324T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGAAAAGTGCGGTGTAAATC	0.463000													4	111					0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234186290	234186290	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:234186290G>A	ENST00000392017.4	+	10	1288	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000392018.1_Missense_Mutation_p.R361H|ATG16L1_ENST00000392020.4_Missense_Mutation_p.R325H|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000347464.5_Missense_Mutation_p.R181H	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	344					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GGCATGGACCGCAGGGTTAAG	0.527000													4	79					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42774991	42774991	+	Silent	SNP	G	G	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr3:42774991G>T	ENST00000310232.6	-	11	1565	c.1482C>A	c.(1480-1482)ggC>ggA	p.G494G	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	494										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CAACATGATCGCCTGCTGAGG	0.542000													73	125					2.9056e-39	3.01693e-39	1	1	0
TRAV8-2	28684	broad.mit.edu	37	14	22315145	22315145	+	RNA	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:22315145G>A	ENST00000390434.3	+	0	308																											CAGCTTGACAGCCACGTCTCT	0.517000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	55					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994040	140994040	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:140994040T>C	ENST00000285879.4	+	4	1136	c.850T>C	c.(850-852)Ttc>Ctc	p.F284L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	284							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGAGTCTTTTCCAGAGTTC	0.493000										HNSCC(15;0.026)			35	80					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134002600	134002600	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:134002600C>A	ENST00000398844.2	+	3	941	c.653C>A	c.(652-654)cCa>cAa	p.P218Q	SEC24A_ENST00000322887.4_Missense_Mutation_p.P218Q	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	218	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGGAGGCCCACCCCCAGTG	0.522000													19	59					8.34094e-07	8.46589e-07	1	1	0
PPP1R13L	10848	broad.mit.edu	37	19	45885983	45885983	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:45885983G>A	ENST00000418234.2	-	12	2328	c.2248_splice	c.e12-1	p.D750_splice	PPP1R13L_ENST00000360957.5_Splice_Site_p.D750_splice	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	750					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTGCTCGACGTCTGAAACAT	0.647000													6	24					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47192825	47192825	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:47192825G>A	ENST00000433867.1	-	15	2417	c.1940C>T	c.(1939-1941)cCt>cTt	p.P647L	PRKD2_ENST00000291281.4_Missense_Mutation_p.P647L|PRKD2_ENST00000601806.1_Missense_Mutation_p.P490L|PRKD2_ENST00000600194.1_Missense_Mutation_p.P490L|PRKD2_ENST00000595515.1_Missense_Mutation_p.P647L	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	647	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GAGGCGCTCAGGCAGCCGGCC	0.607000													13	16					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75445576	75445576	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr9:75445576G>A	ENST00000297784.5	+	23	2778	c.2238G>A	c.(2236-2238)aaG>aaA	p.K746K	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.K746K|TMC1_ENST00000340019.3_Silent_p.K746K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	746					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGCGAAACAAGAAAATGGCAG	0.299000													6	10					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136112393	136112393	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:136112393C>T	ENST00000298110.1	-	1	1440	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	481						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TGGCTATCTTCTTTCGGGGGC	0.488000													10	74					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95734703	95734703	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:95734703G>A	ENST00000311106.3	-	11	1705	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.P443S	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	490					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTCTTGTTGGAATTTCAATG	0.358000													3	13					0	0	1	0	0
ACOT8	10005	broad.mit.edu	37	20	44485899	44485899	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:44485899G>A	ENST00000217455.4	-	1	146	c.56C>T	c.(55-57)cCc>cTc	p.P19L		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	19					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GTCCCCAGGGGGATCGCCGCG	0.672000													9	16					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64791706	64791706	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr15:64791706G>T	ENST00000326648.3	+	1	216	c.88G>T	c.(88-90)Gga>Tga	p.G30*	ZNF609_ENST00000416172.1_Nonsense_Mutation_p.G30*	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	30						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGGGACATTGGAGTAGGGAA	0.532000													31	86					1.836e-18	1.89185e-18	1	1	0
RFWD3	55159	broad.mit.edu	37	16	74694866	74694866	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:74694866G>A	ENST00000361070.4	-	2	579	c.482C>T	c.(481-483)gCa>gTa	p.A161V	RFWD3_ENST00000571750.1_Missense_Mutation_p.A161V	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	161					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TCCGGCTCTTGCCCTCCGTGA	0.463000													36	64					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275852	238275852	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:238275852G>A	ENST00000295550.4	-	11	5430	c.4978C>T	c.(4978-4980)Cgt>Tgt	p.R1660C	COL6A3_ENST00000353578.4_Missense_Mutation_p.R1454C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1454C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1460C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1459C|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1053C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1660	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACACAAAACGAAGCACTTCC	0.443000													3	32					0	0	1	0	0
KLRK1	22914	broad.mit.edu	37	12	10530802	10530802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:10530802C>T	ENST00000240618.6	-	7	602	c.462G>A	c.(460-462)tgG>tgA	p.W154*	RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR|KLRK1_ENST00000540818.1_Nonsense_Mutation_p.W154*	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	154	C-type lectin.				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CTAGTCCCATCCAATGATATG	0.383000													19	69					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121642870	121642870	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:121642870C>T	ENST00000275159.6	-	2	225	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	TBC1D32_ENST00000398212.2_Missense_Mutation_p.E76K					TBC1 domain family, member 32																		GTGCATTTTTCCATTTCTTCT	0.373000													13	96					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121228593	121228593	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:121228593C>T	ENST00000297848.3	+	14	1871	c.1601C>T	c.(1600-1602)gCt>gTt	p.A534V	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.A439V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.A534V	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	534	Fibronectin type-III 4.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGCCAAGTGGCTTTAAGTCCA	0.338000													6	42					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812975	156812975	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:156812975G>A	ENST00000368195.3	-	17	3343	c.2947C>T	c.(2947-2949)Cgg>Tgg	p.R983W	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	983	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.R983W(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAGTTCCCGGATTATCGAG	0.587000													10	37					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165946984	165946984	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:165946984G>A	ENST00000360093.3	-	28	6170	c.5679C>T	c.(5677-5679)acC>acT	p.T1893T	SCN3A_ENST00000409101.3_Silent_p.T1844T|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.T1893T|SCN3A_ENST00000540861.1_Silent_p.T376T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1893						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTCAAAGTGGTTGTAATAG	0.393000													8	25					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212431	26212431	+	Silent	SNP	G	G	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507000													4	71					0.00909568	0.00916331	1	1	0
SLC38A1	81539	broad.mit.edu	37	12	46633487	46633487	+	Missense_Mutation	SNP	C	C	T	rs75571325		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:46633487C>T	ENST00000398637.5	-	3	791	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	SLC38A1_ENST00000439706.1_Missense_Mutation_p.E33K|SLC38A1_ENST00000552197.1_Missense_Mutation_p.E33K|SLC38A1_ENST00000549633.1_Intron|SLC38A1_ENST00000549049.1_Missense_Mutation_p.E33K|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E33K	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	33					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.E33K(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TTTTCTACTTCGGTGAAATCA	0.388000													42	67					0	0	1	0	0
GAGE2B	645037	broad.mit.edu	37	X	49236844	49236844	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:49236844G>A	ENST00000381725.1	+	2	97	c.14G>A	c.(13-15)gGa>gAa	p.G5E		NM_001098411.3	NP_001091881.1			G antigen 2B																		AGTTGGCGAGGAAGATCGACC	0.463000													73	187					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702300	27702300	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:27702300G>A	ENST00000438700.3	-	1	997	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	294					spermatid development	integral to membrane	hedgehog receptor activity	p.P294S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGGTAGAGGGGATGCCTGCCG	0.612000													17	23					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30415991	30415991	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr22:30415991C>T	ENST00000333027.3	+	17	2671	c.2343C>T	c.(2341-2343)gtC>gtT	p.V781V	MTMR3_ENST00000401950.2_Silent_p.V781V|MTMR3_ENST00000351488.3_Silent_p.V781V|MTMR3_ENST00000323630.5_Silent_p.V645V|MTMR3_ENST00000406629.1_Silent_p.V781V|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	781					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CTCTCCAGGTCCCCCCCAGGG	0.552000													17	70					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13705498	13705498	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:13705498C>T	ENST00000357447.2	-	19	1983	c.1615G>A	c.(1615-1617)Gcc>Acc	p.A539T	FRMD4A_ENST00000378503.1_Missense_Mutation_p.A539T|FRMD4A_ENST00000358621.4_Missense_Mutation_p.A524T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	539						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCTTCACTGGCAATGTTTCCA	0.433000													16	23					0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47231919	47231919	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:47231919G>T	ENST00000391910.3	-	7	1445	c.995C>A	c.(994-996)cCa>cAa	p.P332Q	STRN4_ENST00000263280.6_Missense_Mutation_p.P332Q|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.P213Q			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	332						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCGAGGGTCTGGAGCCCCTTC	0.612000													8	51					3.86212e-05	3.90535e-05	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70275840	70275840	+	Silent	SNP	T	T	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr13:70275840T>C	ENST00000377844.4	-	11	3000	c.2241A>G	c.(2239-2241)caA>caG	p.Q747Q	KLHL1_ENST00000545028.1_Silent_p.Q554Q	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	747					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TAAGTCAAGGTTGCTTGATGA	0.348000													7	19					0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45915345	45915345	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:45915345C>T	ENST00000584123.1	-	7	1472	c.1167G>A	c.(1165-1167)caG>caA	p.Q389Q	SCRN2_ENST00000407215.3_3'UTR|SCRN2_ENST00000290216.9_Silent_p.Q381Q			Q96FV2	SCRN2_HUMAN	secernin 2	381					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCTGCTGTTTCTGCTGGAGCT	0.667000													13	49					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33525517	33525517	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:33525517G>A	ENST00000404816.2	+	21	3588		c.e21-1		LTBP1_ENST00000418533.2_Splice_Site|LTBP1_ENST00000390003.4_Splice_Site|LTBP1_ENST00000498013.1_Splice_Site|LTBP1_ENST00000272273.5_Splice_Site|LTBP1_ENST00000404525.1_Splice_Site|LTBP1_ENST00000402934.1_Splice_Site|LTBP1_ENST00000354476.3_Splice_Site|LTBP1_ENST00000407925.1_Splice_Site			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGTGTTTGCAGATATTGATGA	0.453000													18	54					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227953467	227953467	+	Missense_Mutation	SNP	C	C	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:227953467C>A	ENST00000396625.3	-	22	1732	c.1525G>T	c.(1525-1527)Ggg>Tgg	p.G509W	COL4A4_ENST00000329662.7_Missense_Mutation_p.G509W	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	509	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCTGCCTCCCAGGAAGTCCT	0.582000													11	85					4.3838e-07	4.4662e-07	1	1	0
EP400	57634	broad.mit.edu	37	12	132474604	132474604	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:132474604C>T	ENST00000333577.4	+	9	2722	c.2613C>T	c.(2611-2613)gcC>gcT	p.A871A	EP400_ENST00000389562.2_Silent_p.A834A|EP400_ENST00000330386.6_Silent_p.A835A|EP400_ENST00000332482.4_Silent_p.A798A|EP400_ENST00000389561.2_Silent_p.A835A			Q96L91	EP400_HUMAN	E1A binding protein p400	871	HSA.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGATAGCCGCCTCCACGGCCC	0.567000													14	64					0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5018651	5018651	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:5018651G>A	ENST00000307746.4	-	3	265	c.239C>T	c.(238-240)tCg>tTg	p.S80L		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	80					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACACGGGGGCGAGGCCACAAA	0.552000													30	102					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490168	37490168	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:37490168C>T	ENST00000374660.1	+	37	3072	c.2973C>T	c.(2971-2973)ctC>ctT	p.L991L	ANKRD30A_ENST00000602533.1_Silent_p.L872L|ANKRD30A_ENST00000361713.1_Silent_p.L872L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1023						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACAGAGTCTCCGTGAGACTG	0.274000													14	40					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100117249	100117249	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr9:100117249C>T	ENST00000375202.2	+	38	4707	c.3355C>T	c.(3355-3357)Cag>Tag	p.Q1119*	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Nonsense_Mutation_p.Q1119*|CCDC180_ENST00000357054.1_Nonsense_Mutation_p.Q1090*|CCDC180_ENST00000395220.1_3'UTR					coiled-coil domain containing 180																		AGAGAAAATCCAGCGGTTGCT	0.418000													16	30					0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87085199	87085199	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:87085199C>T	ENST00000390655.6	-	2	442	c.384G>A	c.(382-384)aaG>aaA	p.K128K	CD8B_ENST00000331469.2_Silent_p.K128K|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Silent_p.K128K|CD8B_ENST00000393759.2_Silent_p.K128K|CD8B_ENST00000349455.3_Silent_p.K128K	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	128	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GCTGAGTTCCCTTCCCGAAGG	0.567000													40	121					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78909364	78909364	+	Splice_Site	SNP	A	A	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr15:78909364A>T	ENST00000326828.5	-	4	762		c.e4+1		CHRNA3_ENST00000348639.3_Splice_Site	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)						activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGCACCTTACTTGTTATAC	0.552000													10	14					0	0	1	0	0
PRM1	5619	broad.mit.edu	37	16	11375088	11375088	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:11375088C>T	ENST00000312511.3	-	1	119	c.8G>A	c.(7-9)aGg>aAg	p.R3K	RMI2_ENST00000572173.1_Intron	NM_002761.2	NP_002752.1	P04553	HSP1_HUMAN	protamine 1	3					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		large_intestine(2)|skin(2)	4						GCATCTGTACCTGGCCATGGT	0.612000													15	66					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35704661	35704661	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:35704661G>A	ENST00000440995.2	+	17	2389	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.E797K|SPEF2_ENST00000356031.3_Missense_Mutation_p.E802K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	802					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATAGCTGAAGAATTGTCCTA	0.338000													4	36					0	0	1	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167435966	167435966	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:167435966C>T	ENST00000366847.3	+	8	880	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	FGFR1OP_ENST00000349556.4_Missense_Mutation_p.L197F	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	217					G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		CAAAAGCAGCCTTCACTTACT	0.428000			T	FGFR1	"""MPD, NHL"""								21	42					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126249548	126249548	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:126249548A>G	ENST00000405249.1	-	8	1432	c.1433T>C	c.(1432-1434)gTg>gCg	p.V478A	GRM8_ENST00000339582.2_Silent_p.S454S|GRM8_ENST00000444921.2_Silent_p.S454S|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.S454S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	0					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GAGTGCCAGCACTGCCTATAA	0.333000										HNSCC(24;0.065)			3	42					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928185	15928185	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:15928185C>T	ENST00000504595.1	+	3	795	c.314C>T	c.(313-315)tCc>tTc	p.S105F	FBXL7_ENST00000510662.1_Missense_Mutation_p.S58F|FBXL7_ENST00000329673.7_Missense_Mutation_p.S93F	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	105					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGGCTCGCCTCCAGACCCCAG	0.687000													8	19					0	0	1	0	0
SSX3	10214	broad.mit.edu	37	X	48206956	48206956	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:48206956C>T	ENST00000298396.2	-	7	602	c.550G>A	c.(550-552)Gag>Aag	p.E184K	SSX3_ENST00000376895.1_Missense_Mutation_p.E96K	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						TCATCTTCCTCAGGATCGCTG	0.488000													37	228					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797671	34797671	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:34797671G>A	ENST00000338074.2	+	15	2091	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	EPB41L1_ENST00000441639.1_Missense_Mutation_p.D570N|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000202028.5_Missense_Mutation_p.D570N|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_Missense_Mutation_p.D644N|EPB41L1_ENST00000373950.2_Missense_Mutation_p.D535N	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	644					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GCCTGAGCTCGACCGGGACAA	0.612000													15	45					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1418242	1418242	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:1418242C>T	ENST00000345913.4	+	2	153	c.62C>T	c.(61-63)cCc>cTc	p.P21L	TPO_ENST00000539820.1_Missense_Mutation_p.P21L|TPO_ENST00000337415.3_Missense_Mutation_p.P21L|TPO_ENST00000382269.3_Missense_Mutation_p.P21L|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.P21L|TPO_ENST00000349624.3_Missense_Mutation_p.P21L|TPO_ENST00000382201.3_Missense_Mutation_p.P21L|TPO_ENST00000329066.4_Missense_Mutation_p.P21L|TPO_ENST00000346956.3_Missense_Mutation_p.P21L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	21					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCTTCTTCCCCTTCATCTCG	0.448000													7	21					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519757	113519757	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:113519757C>T	ENST00000284601.3	-	4	1458	c.1390G>A	c.(1390-1392)Gga>Aga	p.G464R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	464					glycogen metabolic process	integral to membrane		p.G464R(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTAAGGTTTCCTGCCATTAGT	0.408000													13	53					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345256	33345256	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:33345256G>A	ENST00000374796.2	-	8	3865	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P432L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	432	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GAAGGAGGAGGGTGAGGAGGC	0.582000													21	46					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33482341	33482341	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:33482341G>A	ENST00000268876.5	+	7	763	c.666G>A	c.(664-666)cgG>cgA	p.R222R	UNC45B_ENST00000378449.1_Silent_p.R222R|UNC45B_ENST00000433649.1_Silent_p.R222R|UNC45B_ENST00000394570.2_Silent_p.R222R|UNC45B_ENST00000591048.1_Silent_p.R222R	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	222					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATGCAGTGCGGATAGACCGAA	0.562000													13	43					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171225751	171225751	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:171225751G>A	ENST00000334231.6	+	9	862	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.E279K|MYO3B_ENST00000409044.3_Missense_Mutation_p.E279K			Q8WXR4	MYO3B_HUMAN	myosin IIIB	279	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TAAGGATTTTGAAAGGCGACC	0.418000													13	49					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56459380	56459380	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:56459380G>A	ENST00000291971.3	+	1	183	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E38K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	38	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCCCCATGTGAAAATGGGGT	0.527000													21	38					0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1165227	1165227	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:1165227C>T	ENST00000290902.5	-	3	600	c.268G>A	c.(268-270)Gtc>Atc	p.V90I	SPON2_ENST00000431380.1_Missense_Mutation_p.V90I	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	90	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CCGTTACTGACGTACTGGTTC	0.697000													7	57					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179460696	179460696	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:179460696G>A	ENST00000367618.3	+	19	2502	c.2115G>A	c.(2113-2115)atG>atA	p.M705I	AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	705										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATATATCTATGATCCAGTGGA	0.318000													10	68					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242418	87242418	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:87242418C>T	ENST00000297524.3	-	1	192	c.89G>A	c.(88-90)gGa>gAa	p.G30E	SLC7A13_ENST00000419776.2_Missense_Mutation_p.G30E|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	30						integral to membrane	amino acid transmembrane transporter activity	p.G30E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CACAAAAATTCCTGCACCAAT	0.453000													11	60					0	0	1	0	0
NMNAT2	23057	broad.mit.edu	37	1	183273853	183273853	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:183273853C>T	ENST00000294868.4	-	1	156	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	NMNAT2_ENST00000287713.6_Intron	NM_170706.3	NP_733820.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	0					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GCCTGAATTTCCTCTAGTTCC	0.542000													25	58					0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69478475	69478475	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:69478475A>T	ENST00000374519.2	-	1	1179	c.1000T>A	c.(1000-1002)Tcc>Acc	p.S334T		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	334					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						AGTGCCAGGGAAGAGGCAGCC	0.607000													5	36					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58031069	58031069	+	Silent	SNP	C	C	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:58031069C>A	ENST00000556826.1	-	8	1478	c.1242G>T	c.(1240-1242)gtG>gtT	p.V414V	SLC35F4_ENST00000554729.1_Silent_p.V291V|SLC35F4_ENST00000339762.6_Silent_p.V450V	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATTGAATATCACCTCCTGCT	0.448000													4	10					0.150653	0.150653	1	1	0
TIMM10B	26515	broad.mit.edu	37	11	6503275	6503275	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:6503275G>A	ENST00000254616.6	+	3	206	c.135_splice	c.e3-1	p.E46_splice	TIMM10B_ENST00000530751.1_Splice_Site_p.E14_splice|TIMM10B_ENST00000472836.1_Splice_Site_p.E46_splice	NM_012192.3	NP_036324.1			translocase of inner mitochondrial membrane 10 homolog B (yeast)																		TTCCTTCTAGGAGGCCTGTCT	0.602000													28	106					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254794	3254794	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:3254794C>T	ENST00000304646.2	+	1	548	c.548C>T	c.(547-549)cCc>cTc	p.P183L	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GATGTGACTCCCCTACTGAAA	0.512000													22	73					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7909790	7909790	+	Missense_Mutation	SNP	C	C	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:7909790C>G	ENST00000254854.4	+	4	1286	c.1136C>G	c.(1135-1137)gCc>gGc	p.A379G		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	379					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GCAGCTGTGGCCCGCCACATC	0.672000													21	48					0	0	1	0	0
TIMM10B	26515	broad.mit.edu	37	11	6503274	6503274	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:6503274G>A	ENST00000254616.6	+	3	205		c.e3-1		TIMM10B_ENST00000530751.1_Splice_Site|TIMM10B_ENST00000472836.1_Splice_Site	NM_012192.3	NP_036324.1			translocase of inner mitochondrial membrane 10 homolog B (yeast)																		CTTCCTTCTAGGAGGCCTGTC	0.607000													29	106					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888630	38888630	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr3:38888630G>A	ENST00000450244.1	-	26	5129	c.4931C>T	c.(4930-4932)tCt>tTt	p.S1644F	SCN11A_ENST00000456224.3_Missense_Mutation_p.S1606F|SCN11A_ENST00000302328.3_Missense_Mutation_p.S1644F			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1644					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGAAAGGGCAGAATATTTGAT	0.408000													29	47					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152936209	152936209	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:152936209G>A	ENST00000393831.2	-	10	1387	c.953C>T	c.(952-954)aCa>aTa	p.T318I	PNCK_ENST00000370145.4_Missense_Mutation_p.T312I|PNCK_ENST00000370150.1_Missense_Mutation_p.T295I|PNCK_ENST00000447676.2_Missense_Mutation_p.T378I|PNCK_ENST00000340888.3_Missense_Mutation_p.T295I|PNCK_ENST00000370142.1_Missense_Mutation_p.T318I	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	295						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCAGTGTGTCCGAGCAAA	0.607000													3	34					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8408108	8408108	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:8408108G>A	ENST00000360416.3	-	28	3641	c.3503C>T	c.(3502-3504)gCc>gTc	p.A1168V	MYH10_ENST00000269243.4_Missense_Mutation_p.A1137V|MYH10_ENST00000396239.1_Missense_Mutation_p.A1158V|MYH10_ENST00000379980.4_Missense_Mutation_p.A1153V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1137					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTGCTTTTCGGCCTTGTTCCG	0.507000													20	97					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104512071	104512071	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:104512071G>A	ENST00000372582.1	+	5	1300	c.543_splice	c.e5-1	p.E182_splice	IL1RAPL2_ENST00000344799.4_Splice_Site_p.E182_splice	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	182	Ig-like C2-type 2.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTATCTGCAGGAATGCAAGCC	0.328000													8	56					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863824	6863824	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:6863824G>A	ENST00000307659.5	+	7	2170	c.1715G>A	c.(1714-1716)aGc>aAc	p.S572N	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S572N	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	572							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GATTCTACCAGCTCCGTAGGT	0.493000													31	114					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13788950	13788950	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:13788950G>A	ENST00000265104.4	-	51	8626	c.8522C>T	c.(8521-8523)aCc>aTc	p.T2841I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2841					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCAAACCAGGTCACATCACT	0.383000									Kartagener syndrome				22	67					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169812418	169812418	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:169812418C>T	ENST00000274629.4	-	2	476	c.34G>A	c.(34-36)Gga>Aga	p.G12R	KCNMB1_ENST00000521859.1_Missense_Mutation_p.G12R|KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	12					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CGTGTCTCTCCCCGCTTCTGG	0.537000													12	25					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22013870	22013870	+	Silent	SNP	C	C	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:22013870C>A	ENST00000306317.2	-	1	475	c.186G>T	c.(184-186)ctG>ctT	p.L62L	LGI3_ENST00000424267.2_Silent_p.L62L	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	62	LRRNT.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCTCCGAGGGCAGGTTCCTGG	0.682000													8	17					5.4927e-09	5.61707e-09	1	1	0
GPD1	2819	broad.mit.edu	37	12	50498508	50498508	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:50498508C>T	ENST00000301149.3	+	2	425	c.193C>T	c.(193-195)Cca>Tca	p.P65S	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.P65S	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	65					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	CAAATACCTGCCAGGGCACAA	0.537000													27	47					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224628	3224628	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:3224628C>T	ENST00000520002.1	-	21	3599	c.3044G>A	c.(3043-3045)gGa>gAa	p.G1015E	CSMD1_ENST00000602723.1_Missense_Mutation_p.G1015E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1015E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1015E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1014E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1014E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1014E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1015	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGTGAAGTTTCCAAACAGGCC	0.473000													3	11					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955510	18955510	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:18955510G>A	ENST00000302797.3	-	1	1046	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	274					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAGCCCACGAAGAAGTAAA	0.512000													9	125					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334619	69334619	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:69334619C>T	ENST00000305363.4	+	4	345	c.281C>T	c.(280-282)tCt>tTt	p.S94F		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	94	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTTATAAATCTCCATTAAGG	0.294000													26	51					0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84284814	84284814	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:84284814T>C	ENST00000428679.2	-	26	2950	c.2357A>G	c.(2356-2358)gAg>gGg	p.E786G	SNAP91_ENST00000521485.1_Missense_Mutation_p.E781G|SNAP91_ENST00000520213.1_Missense_Mutation_p.E479G|SNAP91_ENST00000520302.1_Missense_Mutation_p.E756G|SNAP91_ENST00000437520.1_Missense_Mutation_p.E479G|SNAP91_ENST00000369694.2_Missense_Mutation_p.E786G|SNAP91_ENST00000521743.1_Missense_Mutation_p.E786G|SNAP91_ENST00000195649.6_Missense_Mutation_p.E781G|SNAP91_ENST00000439399.2_Missense_Mutation_p.E786G			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	786					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CAACTTTTTCTCTCCAGCATT	0.443000													3	6					0	0	1	0	0
NMNAT2	23057	broad.mit.edu	37	1	183255866	183255866	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:183255866C>T	ENST00000287713.6	-	5	713	c.379G>A	c.(379-381)Gga>Aga	p.G127R	NMNAT2_ENST00000473046.1_5'UTR|NMNAT2_ENST00000294868.4_Missense_Mutation_p.G122R	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	127					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						TGTGGCTGTCCGATCACAGGT	0.522000													13	49					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10166317	10166317	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:10166317C>T	ENST00000343090.6	+	7	947	c.872C>T	c.(871-873)cCg>cTg	p.P291L	UBE4B_ENST00000253251.8_Intron|UBE4B_ENST00000377157.3_Intron	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	291					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTGATGGGCCCGTCTCTTGCC	0.557000													11	53					0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48887752	48887752	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:48887752C>T	ENST00000315869.7	-	10	1904	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	549					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGCAGGGGATCGGAGGCAGCC	0.667000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								4	29					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81568680	81568680	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:81568680C>T	ENST00000548058.1	+	8	2122	c.1212C>T	c.(1210-1212)gaC>gaT	p.D404D	ACSS3_ENST00000261206.3_Silent_p.D403D|ACSS3_ENST00000548324.1_Silent_p.D86D			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	404						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTCAACAGGACCCTGGGGCAG	0.488000													4	35					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68552289	68552289	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:68552289C>T	ENST00000265641.5	-	10	1311	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E	CPT1A_ENST00000540367.1_Missense_Mutation_p.G386E|CPT1A_ENST00000539743.1_Missense_Mutation_p.G386E|CPT1A_ENST00000376618.2_Missense_Mutation_p.G386E	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	386					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GCACCTGTCTCCTGCGGTGAG	0.662000													16	27					0	0	1	0	0
YBX3	8531	broad.mit.edu	37	12	10865863	10865863	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:10865863G>A	ENST00000228251.4	-	5	720	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	YBX3_ENST00000279550.7_Missense_Mutation_p.R174W	NM_003651.4	NP_003642.3			Y box binding protein 3																		TAACGGCGCCGATCTGCAGCG	0.517000													36	94					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26542784	26542784	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr13:26542784G>A	ENST00000381655.2	+	35	3486	c.3344G>A	c.(3343-3345)gGa>gAa	p.G1115E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G1050E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	1075					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CGAGTCCTGGGAAAAGCGGTG	0.537000													5	26					0	0	1	0	0
COQ6	51004	broad.mit.edu	37	14	74428158	74428158	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:74428158G>A	ENST00000334571.2	+	10	1135	c.1094_splice	c.e10-1	p.G365_splice	COQ6_ENST00000238709.4_Splice_Site_p.G290_splice|COQ6_ENST00000394026.4_Splice_Site_p.G340_splice|COQ6_ENST00000557780.1_3'UTR|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	365					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		TTATTCTTAGGGATGCAGCCC	0.562000													8	30					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172752932	172752932	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:172752932A>G	ENST00000265087.4	-	2	1542	c.233T>C	c.(232-234)aTt>aCt	p.I78T		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	78					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TAAGCCCCGAATCTCACAAGA	0.458000													108	237					0	0	1	0	0
STK26	51765	broad.mit.edu	37	X	131203517	131203517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:131203517G>A	ENST00000394334.2	+	7	862	c.609G>A	c.(607-609)tgG>tgA	p.W203*	MST4_ENST00000496850.1_Intron|MST4_ENST00000481105.1_Nonsense_Mutation_p.W225*|MST4_ENST00000394335.2_Nonsense_Mutation_p.W126*|MST4_ENST00000354719.6_Nonsense_Mutation_p.W203*	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		203	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CTGACATTTGGTCATTGGGAA	0.303000													12	19					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25264281	25264281	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:25264281G>A	ENST00000328086.7	-	3	1467	c.664C>T	c.(664-666)Cct>Tct	p.P222S		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GACCCAGCAGGAAGCCGTGTG	0.493000													22	118					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158115828	158115828	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:158115828G>A	ENST00000259056.4	+	1	1719	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	412					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCATATAAAAGCCCTTTTACC	0.478000													28	49					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112564	57112564	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:57112564G>A	ENST00000454682.1	-	3	3031	c.2750C>T	c.(2749-2751)tCc>tTc	p.S917F	NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTTGGGGGAGGAAGAAGT	0.607000			T	BCL6	NHL								16	32					0	0	1	0	0
LACTB2	51110	broad.mit.edu	37	8	71574087	71574087	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:71574087G>A	ENST00000276590.4	-	2	204	c.168C>T	c.(166-168)atC>atT	p.I56I	RP11-382J12.1_ENST00000499227.2_3'UTR|LACTB2_ENST00000522447.1_Silent_p.I56I	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	56							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTAAACAGCTGATGTATTCTG	0.403000													18	45					0	0	1	0	0
NAALADL1	10004	broad.mit.edu	37	11	64821042	64821042	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:64821042C>T	ENST00000358658.3	-	7	1026	c.999G>A	c.(997-999)gtG>gtA	p.V333V	NAALADL1_ENST00000339885.2_Silent_p.V333V|NAALADL1_ENST00000340252.4_Silent_p.V333V|NAALADL1_ENST00000356632.3_Silent_p.V298V|NAALADL1_ENST00000355369.2_Silent_p.V333V|NAALADL1_ENST00000355721.3_Silent_p.V292V	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	333	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CGCTCACATTCACCTGGCTGG	0.627000													19	28					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71909666	71909666	+	Silent	SNP	C	C	T	rs147263499	byFrequency	TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:71909666C>T	ENST00000258104.3	+	54	6340	c.6063C>T	c.(6061-6063)ccC>ccT	p.P2021P	DYSF_ENST00000409744.1_Silent_p.P2029P|DYSF_ENST00000413539.2_Silent_p.P2052P|DYSF_ENST00000429174.2_Silent_p.P2042P|DYSF_ENST00000410041.1_Silent_p.P2039P|DYSF_ENST00000409582.3_Silent_p.P2059P|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Silent_p.P2038P|DYSF_ENST00000409651.1_Silent_p.P2053P|DYSF_ENST00000409366.1_Silent_p.P2043P|DYSF_ENST00000410020.3_Silent_p.P2060P|DYSF_ENST00000394120.2_Silent_p.P2022P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2021						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCAGGCGCCCCGACACCTCCT	0.562000													15	98					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38354506	38354506	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr3:38354506C>T	ENST00000273173.4	+	5	1052	c.961C>T	c.(961-963)Ccg>Tcg	p.P321S	SLC22A14_ENST00000448498.1_Missense_Mutation_p.P321S	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	321						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCCGGAGTCCCCGCGGTGGCT	0.592000													4	4					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89984764	89984764	+	Silent	SNP	G	G	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:89984764G>C	ENST00000428670.3	-	21	4116	c.3660C>G	c.(3658-3660)ctC>ctG	p.L1220L	RP11-981P6.1_ENST00000552778.1_RNA|ATP2B1_ENST00000393164.2_Silent_p.L963L|ATP2B1_ENST00000359142.3_3'UTR|ATP2B1_ENST00000261173.2_Silent_p.L1220L|ATP2B1_ENST00000348959.3_Silent_p.L1184L			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1258					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CTTACAATCAGAGTGATGTTT	0.388000													13	79					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25477588	25477588	+	RNA	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr15:25477588C>T	ENST00000453082.2	+	0	1700				SNORD115-34_ENST00000362441.1_RNA	NR_003343.1																						ACTTAAAAATCATGCTCAATA	0.522000													91	214					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47703278	47703278	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:47703278C>T	ENST00000455779.1	+	27	2744	c.2559C>T	c.(2557-2559)atC>atT	p.I853I	PHKB_ENST00000299167.8_Silent_p.I860I|PHKB_ENST00000323584.5_Silent_p.I860I|PHKB_ENST00000566044.1_Silent_p.I853I			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	860					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTGGCTGGATCATCTCCAATA	0.413000													11	75					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377610	50377610	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:50377610C>T	ENST00000376020.2	-	4	1488	c.1463G>A	c.(1462-1464)gGa>gAa	p.G488E	SHROOM4_ENST00000289292.7_Missense_Mutation_p.G488E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.G372E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	488					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTCTGGTGTCCCAAAACTAA	0.512000													40	84					0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172666191	172666191	+	Missense_Mutation	SNP	A	A	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:172666191A>C	ENST00000422440.2	-	13	1267	c.1230T>G	c.(1228-1230)aaT>aaG	p.N410K	SLC25A12_ENST00000392592.4_Missense_Mutation_p.N303K	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	410					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAACAAAATCATTAACCTAAT	0.388000													26	60					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31015394	31015394	+	Missense_Mutation	SNP	G	G	A	rs146944568	byFrequency	TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:31015394G>A	ENST00000409316.1	+	7	621	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	GHRHR_ENST00000326139.2_Silent_p.V295V|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Silent_p.V231V			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	0					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ATTTCCAGGTGAACTTTGGGC	0.517000													14	32					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100674883	100674883	+	Splice_Site	SNP	T	T	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:100674883T>C	ENST00000306151.4	+	3	250	c.184_splice	c.e3-1	p.G62_splice		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	62						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTAAACAGGTTCTGCGGCAA	0.413000													18	50					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54308622	54308622	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:54308622C>T	ENST00000324134.6	-	5	2494	c.2326G>A	c.(2326-2328)Gat>Aat	p.D776N	NLRP12_ENST00000391775.3_Missense_Mutation_p.D776N|NLRP12_ENST00000354278.3_Missense_Mutation_p.D776N|NLRP12_ENST00000351894.4_Missense_Mutation_p.D776N|NLRP12_ENST00000345770.5_Missense_Mutation_p.D777N|NLRP12_ENST00000535162.1_Missense_Mutation_p.D776N|NLRP12_ENST00000391772.1_Missense_Mutation_p.D777N|NLRP12_ENST00000391773.1_Missense_Mutation_p.D777N	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	776					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCACTGAGATCCATCCTTGTC	0.557000													37	89					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124389970	124389970	+	Missense_Mutation	SNP	A	A	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:124389970A>T	ENST00000368909.3	+	45	5708	c.5602A>T	c.(5602-5604)Act>Tct	p.T1868S	DMBT1_ENST00000359586.6_Missense_Mutation_p.T588S|DMBT1_ENST00000368956.2_Missense_Mutation_p.T1240S|DMBT1_ENST00000344338.3_Missense_Mutation_p.T1858S|DMBT1_ENST00000368955.3_Missense_Mutation_p.T1858S|DMBT1_ENST00000338354.3_Missense_Mutation_p.T1868S|DMBT1_ENST00000330163.4_Missense_Mutation_p.T1240S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1868	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTTCCAAAACACTGGCTTTTT	0.458000													11	21					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104827	168104827	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:168104827C>T	ENST00000409195.1	+	9	7014	c.6925C>T	c.(6925-6927)Cct>Tct	p.P2309S	XIRP2_ENST00000295237.9_Missense_Mutation_p.P2309S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2087S|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2134					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATTGAATTTCCTCTTCCTCC	0.428000													19	74					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399065	22399065	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:22399065G>A	ENST00000263160.3	+	12	1965	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	510					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AGACCCGGAGGAAACAAGTGA	0.408000													15	32					0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605584	171605584	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:171605584C>T	ENST00000037502.5	-	3	1055	c.996G>A	c.(994-996)ggG>ggA	p.G332G		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	332	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AATAGAGGCTCCCCGAGTACA	0.522000													21	56					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130174366	130174366	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr3:130174366G>T	ENST00000265379.6	+	37	7140	c.6646G>T	c.(6646-6648)Ggg>Tgg	p.G2216W	COL6A5_ENST00000432398.2_Missense_Mutation_p.G2216W			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2216	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATTAAATTCTGGGAGAGAATC	0.353000													5	23					0.014758	0.0148126	1	1	0
ZC3H4	23211	broad.mit.edu	37	19	47570723	47570723	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:47570723C>T	ENST00000253048.5	-	15	2839	c.2802G>A	c.(2800-2802)gaG>gaA	p.E934E	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	934							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCACGGCCTTCTCCCGCAGGG	0.677000													26	152					0	0	1	0	0
OR6C75	390323	broad.mit.edu	37	12	55758906	55758906	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:55758906C>T	ENST00000343399.3	+	1	12	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGAGAAATTCCACAGCAGTAA	0.323000													31	68					0	0	1	0	0
CDC40	51362	broad.mit.edu	37	6	110530399	110530399	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:110530399T>G	ENST00000368932.1	+	6	704	c.603T>G	c.(601-603)gaT>gaG	p.D201E	CDC40_ENST00000368933.1_Missense_Mutation_p.D201E|CDC40_ENST00000368930.1_Missense_Mutation_p.D201E|CDC40_ENST00000307731.1_Missense_Mutation_p.D201E			O60508	PRP17_HUMAN	cell division cycle 40	201					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AATATGTGGATGAAAAAGATG	0.323000													10	42					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51484000	51484000	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:51484000C>T	ENST00000371117.3	-	67	12379	c.12104G>A	c.(12103-12105)aGt>aAt	p.S4035N	RP3-335N17.2_ENST00000589278.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4035					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACTCAGCCGACTTTGCCCTGG	0.562000													8	73					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61937372	61937372	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:61937372C>T	ENST00000422202.1	+	4	545	c.477C>T	c.(475-477)agC>agT	p.S159S	COL20A1_ENST00000326996.6_Silent_p.S159S|COL20A1_ENST00000358894.6_Silent_p.S159S|COL20A1_ENST00000435874.1_Silent_p.S159S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	159					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCACACCAAGCCAGGATCCGC	0.642000													8	33					0	0	1	0	0
MRPS11	64963	broad.mit.edu	37	15	89015862	89015862	+	Missense_Mutation	SNP	T	T	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr15:89015862T>A	ENST00000325844.4	+	3	452	c.187T>A	c.(187-189)Tac>Aac	p.Y63N	MRPS11_ENST00000353598.6_Intron|MRPS11_ENST00000557974.1_Intron	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	63					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTGCAGCATTTACCCTCCCAT	0.383000													16	20					0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363385	4363385	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:4363385G>A	ENST00000269886.3	-	7	888	c.710C>T	c.(709-711)gCg>gTg	p.A237V	SH3GL1_ENST00000417295.2_Missense_Mutation_p.A189V|SH3GL1_ENST00000598564.1_Missense_Mutation_p.A173V	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	237	BAR.|Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GAGCTTCTCCGCCAGCTCGTC	0.652000			T	MLL	AL								5	19					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60928261	60928261	+	Silent	SNP	C	C	T	rs147156617		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:60928261C>T	ENST00000321731.3	-	12	1182	c.1023G>A	c.(1021-1023)acG>acA	p.T341T		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	341										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTGTGATAGTCGTAATATGTG	0.284000													6	12					0	0	1	0	0
CHTOP	26097	broad.mit.edu	37	1	153617557	153617557	+	Missense_Mutation	SNP	C	C	T	rs147496068		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:153617557C>T	ENST00000368694.3	+	6	871	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	CHTOP_ENST00000368687.1_Missense_Mutation_p.R162W|CHTOP_ENST00000495554.1_3'UTR|CHTOP_ENST00000403433.1_Missense_Mutation_p.R141W|CHTOP_ENST00000368690.3_Missense_Mutation_p.R141W	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	187	Arg/Gly-rich.|Interaction with PRMT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding	p.I185fs*20(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						TATGATAGGTCGGGGAAGAGG	0.527000													5	74					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552767	140552767	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:140552767C>T	ENST00000231137.3	+	1	525	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		117	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGATTTTCCGTGCTGAAC	0.448000													18	55					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169934	207169934	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:207169934C>T	ENST00000374423.3	+	5	1068	c.682C>T	c.(682-684)Ctt>Ttt	p.L228F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	228							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGAGAAATATCTTGAACAGCC	0.388000													17	32					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532699	84532699	+	RNA	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr9:84532699C>T	ENST00000527857.1	+	0	2721					NR_026851.1																						CAGGAGATTTCCTTCCTTAGT	0.433000													8	10					0	0	1	0	0
GPR37L1	9283	broad.mit.edu	37	1	202097430	202097430	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:202097430G>A	ENST00000367282.4	+	2	1298	c.1192G>A	c.(1192-1194)Ggc>Agc	p.G398S		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	398						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GGACCTCCTGGGCCTCATCAA	0.632000													22	67					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158454697	158454697	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:158454697C>T	ENST00000355585.4	+	4	771	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SYNJ2_ENST00000449859.2_Silent_p.F181F|SYNJ2_ENST00000367121.3_Silent_p.F232F|SYNJ2_ENST00000367122.2_Silent_p.F232F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	232	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			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)		TGTCCAACTTCGTGGAGACAG	0.617000													9	38					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49855113	49855113	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:49855113C>T	ENST00000376088.3	+	13	2726	c.2085C>T	c.(2083-2085)tcC>tcT	p.S695S	CLCN5_ENST00000376091.3_Silent_p.S695S|CLCN5_ENST00000376108.3_Silent_p.S625S|CLCN5_ENST00000307367.2_Silent_p.S625S	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	625	CBS 2.				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGGTGGTATCCCGGGAGTCCC	0.458000													11	16					0	0	1	0	0
MIR526A1	574475	broad.mit.edu	37	19	54209590	54209590	+	RNA	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:54209590G>A	ENST00000384897.1	+	0	85					NR_030197.1																						TACTCTTTGAGAAAAACAACA	0.408000													25	22					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448921	104448921	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr9:104448921C>T	ENST00000361820.3	-	2	1861	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	421					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTTTCCACCTCCATGCAGTTC	0.468000													37	52					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48349628	48349628	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:48349628G>A	ENST00000435803.1	+	24	9430	c.9406G>A	c.(9406-9408)Gaa>Aaa	p.E3136K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3136					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCCAAAGGGGAAAAATCTTG	0.483000													38	160					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23868113	23868113	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:23868113C>T	ENST00000405093.3	-	15	1785	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E	MYH6_ENST00000356287.3_Missense_Mutation_p.G572E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	572	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTCCTGCTTCCCCTTGATGTT	0.537000													14	68					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063668	170063668	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:170063668T>C	ENST00000263816.3	-	39	6847	c.6562A>G	c.(6562-6564)Aca>Gca	p.T2188A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2188					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGTCCACTGTGACTTTAAGA	0.428000													30	99					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29056048	29056048	+	Missense_Mutation	SNP	C	C	T	rs141527621		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr18:29056048C>T	ENST00000257189.4	+	16	2908	c.2825C>T	c.(2824-2826)tCc>tTc	p.S942F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	942					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S942F(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTTCTGGTTCCCTCGTGCAA	0.507000													26	73					0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	722403	722403	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:722403C>T	ENST00000533256.1	+	14	1437	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Silent_p.I354I|EPS8L2_ENST00000526198.1_Silent_p.I370I|EPS8L2_ENST00000318562.8_Silent_p.I354I			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	354						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCCCCAGATCGTCAACACCT	0.662000													7	35					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8563369	8563369	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:8563369C>T	ENST00000423345.4	-	2	1843	c.1323G>A	c.(1321-1323)cgG>cgA	p.R441R	PRAM1_ENST00000255612.3_Silent_p.R441R			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	489	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCAGAGGCCTCCGCCGGGGTG	0.711000													6	19					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42336711	42336711	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:42336711G>A	ENST00000262418.6	-	9	851	c.694_splice	c.e9-1	p.G232_splice	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	232					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGTCGGCGCGGCCTGTTAGGG	0.667000													4	19					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306409	54306409	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr15:54306409C>T	ENST00000545554.1	+	1	1309	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	UNC13C_ENST00000537900.1_Missense_Mutation_p.P437S|UNC13C_ENST00000260323.11_Missense_Mutation_p.P437S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	437					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTTGTCTACTCCAGAGCCAAA	0.398000													19	66					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761086	121761086	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:121761086G>A	ENST00000261367.7	+	7	2611	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	SNCAIP_ENST00000503116.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E348K|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Missense_Mutation_p.R57Q			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	348					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATTCACGACGAAAATGGAAA	0.438000													27	100					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143560777	143560777	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:143560777C>T	ENST00000517894.1	+	8	2549	c.1655C>T	c.(1654-1656)cCc>cTc	p.P552L	BAI1_ENST00000323289.5_Missense_Mutation_p.P552L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	552	TSP type-1 5.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGCTCTGGGCCCTTCTTCGGG	0.711000													5	23					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210594984	210594984	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:210594984C>T	ENST00000360351.4	+	15	5853	c.5347C>T	c.(5347-5349)Cca>Tca	p.P1783S	MAP2_ENST00000447185.1_Missense_Mutation_p.P1779S|MAP2_ENST00000199940.6_Missense_Mutation_p.P515S|MAP2_ENST00000361559.4_Missense_Mutation_p.P427S|MAP2_ENST00000392194.1_Missense_Mutation_p.P427S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1783					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TACACAGTCCCCAGGCAGATC	0.522000													5	24					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143793105	143793105	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:143793105G>A	ENST00000408949.2	+	1	965	c.905G>A	c.(904-906)aGa>aAa	p.R302K		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCTCTAAAGAGAGTCCTTTGG	0.448000													49	184					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916174	131916174	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:131916174G>A	ENST00000286355.5	-	7	3847	c.1755C>T	c.(1753-1755)taC>taT	p.Y585Y	ADCY8_ENST00000377928.3_Silent_p.Y585Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	585					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTTAATTAAGTAAGTTTCGA	0.488000										HNSCC(32;0.087)			29	67					0	0	1	0	0
CRIPT	9419	broad.mit.edu	37	2	46850911	46850911	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:46850911C>T	ENST00000238892.3	+	4	278	c.146C>T	c.(145-147)cCa>cTa	p.P49L	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	49						cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGATTTGATCCATATGGAAAG	0.353000													9	27					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72234468	72234468	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr18:72234468G>A	ENST00000582365.1	+	5	493	c.426_splice	c.e5-1	p.D143_splice	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000358821.3_Splice_Site_p.D186_splice			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	186					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGTTACTTAGGATCTTCCTGT	0.433000													6	44					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179419	55179419	+	Silent	SNP	A	A	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:55179419A>G	ENST00000391736.1	+	14	1611	c.1296A>G	c.(1294-1296)gaA>gaG	p.E432E	LILRB4_ENST00000391733.3_Silent_p.E433E|LILRB4_ENST00000391734.3_Silent_p.E379E|LILRB4_ENST00000270452.2_Silent_p.E432E|LILRB4_ENST00000430952.2_Silent_p.E431E	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	432						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CATCCCAGGAAGGGGCCTCTC	0.612000													17	113					0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101818209	101818209	+	RNA	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:101818209G>A	ENST00000360035.2	+	0	799					NR_002216.1															endometrium(2)|lung(8)	10						ACCCAGGTATGGCTGACAGCA	0.537000													13	119					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140180991	140180991	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:140180991G>A	ENST00000522353.2	+	1	209	c.209G>A	c.(208-210)aGa>aAa	p.R70K	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R70K|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTCCAAAAGACACGGGGAC	0.632000													5	146					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30887957	30887957	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:30887957C>T	ENST00000251071.5	-	4	1504	c.754G>A	c.(754-756)Gac>Aac	p.D252N	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.D252N|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.D252N|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.D252N|CAPRIN2_ENST00000538387.1_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	252					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATGAGGTAGTCAAGTTCTTTT	0.378000													18	112					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30415992	30415992	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr22:30415992C>T	ENST00000333027.3	+	17	2672	c.2344C>T	c.(2344-2346)Ccc>Tcc	p.P782S	MTMR3_ENST00000401950.2_Missense_Mutation_p.P782S|MTMR3_ENST00000351488.3_Missense_Mutation_p.P782S|MTMR3_ENST00000323630.5_Missense_Mutation_p.P646S|MTMR3_ENST00000406629.1_Missense_Mutation_p.P782S|CTA-85E5.10_ENST00000429350.1_RNA	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	782					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTCCAGGTCCCCCCCAGGGG	0.547000													17	71					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101077016	101077016	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr6:101077016G>A	ENST00000369162.2	-	27	4594	c.4250C>T	c.(4249-4251)tCc>tTc	p.S1417F		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1417	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTGGCAATGGATTTCATATC	0.428000													8	32					0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20780064	20780064	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr22:20780064G>A	ENST00000405555.3	-	11	2269	c.2199C>T	c.(2197-2199)ctC>ctT	p.L733L	SCARF2_ENST00000266214.5_Silent_p.L738L	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	733	Pro-rich.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGGGCGCAGCGAGGGCTGTCG	0.801000													7	5					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123779713	123779713	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr9:123779713G>A	ENST00000223642.1	-	14	1822	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	598					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TGCCACCCAGGAATCCATTCC	0.443000													11	22					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56351216	56351216	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:56351216C>T	ENST00000548747.1	-	6	1533	c.871G>A	c.(871-873)Gtc>Atc	p.V291I	PMEL_ENST00000548493.1_Missense_Mutation_p.V291I|PMEL_ENST00000539511.1_Missense_Mutation_p.V205I|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000449260.2_Missense_Mutation_p.V291I|PMEL_ENST00000360714.4_Missense_Mutation_p.V291I|PMEL_ENST00000550464.1_Missense_Mutation_p.V205I|PMEL_ENST00000552882.1_Missense_Mutation_p.V291I|PMEL_ENST00000536427.1_Missense_Mutation_p.V291I			P40967	PMEL_HUMAN	premelanosome protein	291	PKD.				melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTGCAGGACCACCTGGGCA	0.602000													7	88					0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24621250	24621250	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr22:24621250C>T	ENST00000327365.4	-	10	1882	c.1466G>A	c.(1465-1467)gGg>gAg	p.G489E	GGT5_ENST00000398292.3_Missense_Mutation_p.G490E|GGT5_ENST00000263112.7_Missense_Mutation_p.G457E|GGT5_ENST00000418439.2_Missense_Mutation_p.G413E	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	489					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCCGCCAGCCCCGCCAATCAC	0.617000													23	81					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469317	10469317	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:10469317C>T	ENST00000382483.3	-	4	2514	c.2291G>A	c.(2290-2292)gGg>gAg	p.G764E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	764					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCCGCGTCCCCTGCCCACCC	0.652000													10	64					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128141	83128141	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:83128141C>T	ENST00000329312.4	+	4	462	c.425C>T	c.(424-426)cCa>cTa	p.P142L		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	142					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCAACAAATCCAGAATCCAAG	0.323000													3	10					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190146	58190146	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:58190146G>A	ENST00000318203.5	+	5	1872	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	392					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G392V(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATCCACACAGGAGAAAAGCCT	0.453000													17	170					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12378304	12378304	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:12378304C>T	ENST00000358136.3	+	31	7454	c.7324C>T	c.(7324-7326)Ccc>Tcc	p.P2442S	VPS13D_ENST00000356315.4_Missense_Mutation_p.P2442S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2442					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGCTATAGTTCCCAAAACTGT	0.438000													17	71					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101490387	101490387	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:101490387G>A	ENST00000392979.3	+	18	2068	c.1707G>A	c.(1705-1707)ctG>ctA	p.L569L	ANO4_ENST00000550015.1_Silent_p.L124L|ANO4_ENST00000299222.9_Silent_p.L124L|ANO4_ENST00000392977.3_Silent_p.L604L	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	604						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTGTCAATCTGAACAGCTCCA	0.483000										HNSCC(74;0.22)			5	75					0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201332081	201332081	+	Missense_Mutation	SNP	A	A	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:201332081A>G	ENST00000409988.3	+	10	1439	c.916A>G	c.(916-918)Atg>Gtg	p.M306V	SPATS2L_ENST00000451764.2_Missense_Mutation_p.M306V|SPATS2L_ENST00000409755.3_Missense_Mutation_p.M336V|SPATS2L_ENST00000409718.1_Missense_Mutation_p.M306V|SPATS2L_ENST00000409385.1_Missense_Mutation_p.M246V|SPATS2L_ENST00000409140.3_Missense_Mutation_p.M306V|SPATS2L_ENST00000409151.1_Missense_Mutation_p.M314V|SPATS2L_ENST00000360760.5_Missense_Mutation_p.M237V|SPATS2L_ENST00000358677.4_Missense_Mutation_p.M306V	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	306						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TGCCAGTCAGATGGCAGAGAT	0.473000													17	42					0	0	1	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18597233	18597233	+	RNA	SNP	G	G	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:18597233G>C	ENST00000546162.2	+	0	973					NR_003569.1																						AAAAGGAGTGGATGAGGAACC	0.557000													18	59					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143623663	143623663	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:143623663G>A	ENST00000517894.1	+	28	4962	c.4068G>A	c.(4066-4068)cgG>cgA	p.R1356R	BAI1_ENST00000323289.5_Silent_p.R1356R			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1356					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCACGCTGCGGCCCAAGCCCA	0.667000													9	24					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553789	19553789	+	Missense_Mutation	SNP	G	G	A	rs145666754		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:19553789G>A	ENST00000409832.3	+	1	425	c.373G>A	c.(373-375)Gac>Aac	p.D125N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	125										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACTACGACGACAGCGCTTT	0.592000													27	483					0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874755	33874755	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:33874755G>A	ENST00000374408.3	-	4	1923	c.1827C>T	c.(1825-1827)ccC>ccT	p.P609P		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	609										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGGTTTCAAGGGGCACTCTGG	0.627000													22	54					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35336568	35336568	+	Splice_Site	SNP	A	A	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:35336568A>C	ENST00000278379.3	-	3	593		c.e3+1		SLC1A2_ENST00000395750.1_Splice_Site|SLC1A2_ENST00000606205.1_Splice_Site|SLC1A2_ENST00000395753.1_Splice_Site	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2						D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGGTAGTCTTACCTGTGATTA	0.428000													12	51					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546999	37546999	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:37546999C>T	ENST00000299824.1	+	11	1583	c.1394C>T	c.(1393-1395)gCc>gTc	p.A465V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A423V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	465					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GTGGCCGACGCCACCCCGCCC	0.637000													30	85					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30966449	30966449	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:30966449G>A	ENST00000534090.2	-	13	1420	c.1243_splice	c.e13-1	p.V415_splice	CAPN13_ENST00000295055.8_Intron			Q6MZZ7	CAN13_HUMAN	calpain 13	415					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GGAACCGCTGGAATTAGAGGA	0.468000													11	35					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72346737	72346737	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr18:72346737C>T	ENST00000299687.5	+	1	3762	c.3762C>T	c.(3760-3762)ctC>ctT	p.L1254L	ZNF407_ENST00000582337.1_Silent_p.L1254L|ZNF407_ENST00000309902.6_Silent_p.L1254L|ZNF407_ENST00000577538.1_Silent_p.L1254L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTGTGACGCTCGATGGGGAGC	0.577000													5	37					0	0	1	0	0
SNORD115-44	100033818	broad.mit.edu	37	15	25496010	25496010	+	RNA	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr15:25496010C>T	ENST00000365391.1	+	0	5					NR_003359.1																						TTGGTTGGGTCAATGATGAGA	0.522000													44	231					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103216125	103216125	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:103216125C>T	ENST00000424685.2	-	29	4332	c.4173G>A	c.(4171-4173)gaG>gaA	p.E1391E	RELN_ENST00000343529.5_Silent_p.E1391E|RELN_ENST00000428762.1_Silent_p.E1391E			P78509	RELN_HUMAN	reelin	1391					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGAGCTGCTCTCCTGGATCC	0.448000													19	49					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190535171	190535171	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:190535171C>T	ENST00000260952.4	+	6	2064	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S	ASNSD1_ENST00000607062.1_Missense_Mutation_p.P70S	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	551	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTTTAGATTTCCTTTCCTGGA	0.299000													6	23					0	0	1	0	0
TMEM230	29058	broad.mit.edu	37	20	5089998	5089998	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:5089998C>T	ENST00000379286.2	-	3	499	c.79G>A	c.(79-81)Gat>Aat	p.D27N	TMEM230_ENST00000379283.2_Missense_Mutation_p.D27N|TMEM230_ENST00000379277.2_Missense_Mutation_p.D27N|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000342308.5_Missense_Mutation_p.D90N|TMEM230_ENST00000202834.7_Missense_Mutation_p.D27N|TMEM230_ENST00000379279.2_Missense_Mutation_p.D27N	NM_001009924.1	NP_001009924.1	Q96A57	CT030_HUMAN	transmembrane protein 230	27						integral to membrane											ATGTAGCCATCGTCTGTGCTG	0.468000													7	21					0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980469	110980469	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:110980469G>A	ENST00000524391.1	-	4	2383	c.1351C>T	c.(1351-1353)Cta>Tta	p.L451L	KCNV1_ENST00000297404.1_Silent_p.L451L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	451						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGCTTCTTTAGGGCTTCACGC	0.443000													8	29					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934488	44934488	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:44934488G>A	ENST00000291187.4	-	6	772	c.450C>T	c.(448-450)tcC>tcT	p.S150S	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Silent_p.S156S	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GACTGTCCAGGGAATTCTCAA	0.478000													27	42					0	0	1	0	0
NOP58	51602	broad.mit.edu	37	2	203165002	203165002	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:203165002C>T	ENST00000264279.5	+	13	1540	c.1314C>T	c.(1312-1314)acC>acT	p.T438T		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	438					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						CACTTCCAACCTGTTCTAAAA	0.333000													16	54					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				31	43					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123843465	123843465	+	Missense_Mutation	SNP	G	G	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr10:123843465G>T	ENST00000369005.1	+	4	1790	c.1450G>T	c.(1450-1452)Ggg>Tgg	p.G484W	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.G484W|TACC2_ENST00000453444.2_Missense_Mutation_p.G484W|TACC2_ENST00000515273.1_Missense_Mutation_p.G484W|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.G484W	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	484	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCATCCAGAAGGGGACCCTGG	0.597000													36	70					2.52449e-32	2.61121e-32	1	1	0
SCNN1D	6339	broad.mit.edu	37	1	1222185	1222185	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:1222185G>A	ENST00000338555.2	+	5	1601	c.457G>A	c.(457-459)Gag>Aag	p.E153K	SCNN1D_ENST00000400928.3_Missense_Mutation_p.E153K|SCNN1D_ENST00000379116.5_Missense_Mutation_p.E317K|SCNN1D_ENST00000325425.8_Missense_Mutation_p.E219K					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGCTGGACGAGTTTGCCAG	0.672000													18	43					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51754581	51754581	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:51754581G>A	ENST00000543196.2	-	6	1296	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	GALNT6_ENST00000356317.3_Missense_Mutation_p.S364F			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	364	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCAAAGTAGGACTTGGAGAT	0.557000													13	30					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174870	63174870	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:63174870T>C	ENST00000322893.7	-	11	2591	c.2323A>G	c.(2323-2325)Aag>Gag	p.K775E	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	775					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGTTCTGCTTAAGGGATTCA	0.488000													10	31					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20112428	20112428	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:20112428C>T	ENST00000381569.1	-	2	622	c.265G>A	c.(265-267)Gat>Aat	p.D89N	LZTS1_ENST00000522290.1_Missense_Mutation_p.D89N|LZTS1_ENST00000265801.6_Missense_Mutation_p.D89N			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	89					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CCCCCTAAATCCCCGCTGGAC	0.587000													6	42					0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3382116	3382116	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:3382116C>T	ENST00000589123.1	+	2	530	c.410C>T	c.(409-411)aCc>aTc	p.T137I	NFIC_ENST00000443272.2_Missense_Mutation_p.T146I|NFIC_ENST00000395111.3_Missense_Mutation_p.T137I|NFIC_ENST00000341919.3_Missense_Mutation_p.T146I|NFIC_ENST00000346156.5_Missense_Mutation_p.T137I|NFIC_ENST00000590282.1_Missense_Mutation_p.T146I|NFIC_ENST00000586919.1_Missense_Mutation_p.T137I	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	146					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTGGAGAGCACCGACGGCGAG	0.667000													61	106					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10546182	10546182	+	Silent	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:10546182G>A	ENST00000583535.1	-	15	1629	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	MYH3_ENST00000226209.7_Silent_p.F514F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	514	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGTCCATCCCGAAGTCAATGA	0.507000													31	80					0	0	1	0	0
BTBD3	22903	broad.mit.edu	37	20	11898985	11898985	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:11898985C>T	ENST00000405977.1	+	2	687	c.62C>T	c.(61-63)aCg>aTg	p.T21M	RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000254977.3_5'UTR|BTBD3_ENST00000399006.2_5'UTR|BTBD3_ENST00000378226.2_Missense_Mutation_p.T21M			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	21										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						CTTCCAGAGACGGTAAAGAAC	0.408000													21	208					0	0	1	0	0
PLK1S1	55857	broad.mit.edu	37	20	21209742	21209742	+	RNA	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:21209742C>T	ENST00000457464.1	+	0	1369							Q2M2Z5	KIZ_HUMAN	polo-like kinase 1 substrate 1						spindle organization	centrosome	protein kinase binding										GCTTCTGTGTCACACTTGTCA	0.468000													4	19					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39790197	39790197	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:39790197C>T	ENST00000553728.1	+	23	3427	c.3214C>T	c.(3214-3216)Cct>Tct	p.P1072S	CTAGE5_ENST00000280083.3_Missense_Mutation_p.P537S|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P462S|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P537S|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P508S|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P508S|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P542S|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P457S|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P508S|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P525S																							TTTTCTCTCTCCTCCAACTTT	0.413000													25	57					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38799077	38799077	+	Missense_Mutation	SNP	C	C	T	rs150883098		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:38799077C>T	ENST00000308979.2	-	4	1649	c.1376G>A	c.(1375-1377)aGc>aAc	p.S459N	TLR1_ENST00000502213.2_Missense_Mutation_p.S459N	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	459					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTAGGAATGCTCTTTATTTT	0.358000													21	67					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152510592	152510592	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:152510592C>T	ENST00000427231.2	-	52	7031	c.6829G>A	c.(6829-6831)Gaa>Aaa	p.E2277K	NEB_ENST00000604864.1_Missense_Mutation_p.E2277K|NEB_ENST00000172853.10_Missense_Mutation_p.E2277K|NEB_ENST00000603639.1_Missense_Mutation_p.E2277K|NEB_ENST00000397345.3_Missense_Mutation_p.E2277K|NEB_ENST00000409198.1_Missense_Mutation_p.E2277K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2277					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAAGCTTCTTCCCATCCAAGT	0.328000													5	23					0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61256066	61256066	+	Splice_Site	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr18:61256066G>A	ENST00000344731.5	+	2	267	c.165_splice	c.e2+1	p.E55_splice	SERPINB13_ENST00000269489.5_Splice_Site_p.E55_splice	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	55					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AGTTGGAGGAGGTTGGGCGCA	0.527000													5	32					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238283121	238283121	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr2:238283121C>T	ENST00000295550.4	-	8	4065	c.3613G>A	c.(3613-3615)Gtg>Atg	p.V1205M	COL6A3_ENST00000392003.2_Missense_Mutation_p.V798M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V999M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V999M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1005M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1004M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V598M|COL6A3_ENST00000392004.3_Missense_Mutation_p.V999M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1205	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCTGGGTCACCCTCTCAGAG	0.607000													16	43					0	0	1	0	0
TRAPPC3	27095	broad.mit.edu	37	1	36603489	36603489	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:36603489G>A	ENST00000373166.3	-	4	421	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	TRAPPC3_ENST00000373162.1_Missense_Mutation_p.P65S|TRAPPC3_ENST00000373163.1_Missense_Mutation_p.P65S|TRAPPC3_ENST00000462715.1_5'UTR	NM_001270896.1|NM_014408.3	NP_001257825.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	111						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				TCCACCAAGGGGTTATTTTCC	0.483000													22	46					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215847	130215847	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:130215847G>A	ENST00000276211.5	+	2	553	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.E58K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	70					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCTTACCACGAACTCGTGGC	0.577000													47	107					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608365	84608365	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr9:84608365G>A	ENST00000344803.2	+	4	3027	c.2980G>A	c.(2980-2982)Gtc>Atc	p.V994I		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTCACCTGTCGTCCAAGAAGG	0.502000													4	154					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240964	3240964	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:3240964G>A	ENST00000217939.6	-	5	2916	c.2762C>T	c.(2761-2763)tCt>tTt	p.S921F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	921						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGAGTAGGAGATGGTTCATA	0.498000													26	44					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27248744	27248744	+	Silent	SNP	G	G	A	rs148610349		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:27248744G>A	ENST00000577226.1	-	5	1144	c.798C>T	c.(796-798)ctC>ctT	p.L266L	PHF12_ENST00000332830.4_Silent_p.L266L|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Silent_p.L266L			Q96QT6	PHF12_HUMAN	PHD finger protein 12	266	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	p.L266L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GTAAGGGAACGAGACCATTGT	0.388000													12	63					0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36964237	36964237	+	Missense_Mutation	SNP	T	T	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:36964237T>C	ENST00000454319.1	-	3	267	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	ZNF566_ENST00000493391.1_Intron|ZNF566_ENST00000434377.2_Missense_Mutation_p.M45V|ZNF566_ENST00000472909.2_Intron|ZNF566_ENST00000424129.2_Missense_Mutation_p.M45V|ZNF566_ENST00000392170.2_Missense_Mutation_p.M45V	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TCCTTACCCATTGAAACCAGG	0.438000													30	46					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41274920	41274920	+	Missense_Mutation	SNP	T	T	G			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr3:41274920T>G	ENST00000349496.5	+	8	1450	c.1170T>G	c.(1168-1170)gaT>gaG	p.D390E	CTNNB1_ENST00000396185.3_Missense_Mutation_p.D390E|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D383E|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D390E|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D390E	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	390					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ATCTTTCAGATGCTGCAACTA	0.408000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				17	31					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90072329	90072329	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:90072329C>T	ENST00000405460.2	+	61	12559	c.12463C>T	c.(12463-12465)Ccg>Tcg	p.P4155S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4155					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGATAGCTCCGTCATCTAG	0.428000													9	21					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175067702	175067702	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:175067702G>A	ENST00000239462.4	+	9	2203	c.2090G>A	c.(2089-2091)aGc>aAc	p.S697N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	697	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GACCAGGAGAGCAAGAAGGCC	0.582000													13	54					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9243871	9243871	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:9243871G>A	ENST00000318602.7	-	19	2702	c.2395C>T	c.(2395-2397)Cct>Tct	p.P799S		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	799					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ACAGAGTAAGGCATTGTGAGC	0.512000													16	65					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179420	55179420	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:55179420G>A	ENST00000391736.1	+	14	1612	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R	LILRB4_ENST00000391733.3_Missense_Mutation_p.G434R|LILRB4_ENST00000391734.3_Missense_Mutation_p.G380R|LILRB4_ENST00000270452.2_Missense_Mutation_p.G433R|LILRB4_ENST00000430952.2_Missense_Mutation_p.G432R	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	433						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ATCCCAGGAAGGGGCCTCTCC	0.612000													17	111					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47102868	47102868	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chrX:47102868G>T	ENST00000377107.2	+	13	2011	c.1657G>T	c.(1657-1659)Gag>Tag	p.E553*	USP11_ENST00000218348.3_Nonsense_Mutation_p.E596*			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	596					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTACCTGCGGGAGCGCACCCC	0.607000													15	46					3.41278e-10	3.50327e-10	1	1	0
SLC5A11	115584	broad.mit.edu	37	16	24902354	24902354	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr16:24902354G>A	ENST00000347898.3	+	9	1451	c.829G>A	c.(829-831)Gga>Aga	p.G277R	SLC5A11_ENST00000545376.1_Missense_Mutation_p.G207R|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000539472.1_Missense_Mutation_p.G213R|SLC5A11_ENST00000567758.1_Missense_Mutation_p.G242R|SLC5A11_ENST00000565769.1_Missense_Mutation_p.G213R|SLC5A11_ENST00000568579.1_Missense_Mutation_p.G207R|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000424767.2_Missense_Mutation_p.G242R	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	277					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GGTCCTATTTGGAATGTCCAT	0.562000													50	102					0	0	1	0	0
SRPR	6734	broad.mit.edu	37	11	126137981	126137981	+	Splice_Site	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:126137981C>T	ENST00000332118.6	-	2	272	c.117_splice	c.e2-1	p.E40_splice	SRPR_ENST00000532259.1_Intron|SRPR_ENST00000530680.1_5'UTR	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	40					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCTCCCCGTTCCTGGAGAAAG	0.488000													17	25					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065680	55065680	+	RNA	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:55065680G>A	ENST00000526016.1	-	0	28					NR_038174.2																						CTGGGTCTAGGAAGTAGTTCA	0.478000													8	41					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8602996	8602996	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:8602996G>A	ENST00000360986.4	+	3	442	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.E79K	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	90	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCAGCTCCTGGAAGGCCAGTG	0.667000													9	37					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183091340	183091340	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr1:183091340C>T	ENST00000258341.4	+	13	2612	c.2355C>T	c.(2353-2355)ccC>ccT	p.P785P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	785	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTTGTTCCCAAGACAAAGG	0.507000													22	90					0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80567247	80567247	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr8:80567247G>A	ENST00000220876.7	+	4	812	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	STMN2_ENST00000518111.1_Missense_Mutation_p.E144K|STMN2_ENST00000518491.1_Missense_Mutation_p.E133K	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	144					intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			ACAAATTAAGGAAAACCGTGA	0.448000													16	40					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93712586	93712586	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr14:93712586G>A	ENST00000334746.5	-	10	2475	c.2168C>T	c.(2167-2169)cCa>cTa	p.P723L	BTBD7_ENST00000554565.1_Missense_Mutation_p.P372L|BTBD7_ENST00000393170.2_Missense_Mutation_p.P297L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	723										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGTCAAGAGTGGACTTTCATC	0.383000													19	111					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	173156	173156	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:173156G>A	ENST00000283426.6	+	15	3177	c.3127G>A	c.(3127-3129)Gtc>Atc	p.V1043I		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1043	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGCCACGACGTCTACCTGTA	0.582000													13	86					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	40					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48371897	48371897	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:48371897C>T	ENST00000380518.3	-	44	3171	c.3007G>A	c.(3007-3009)Gag>Aag	p.E1003K	COL2A1_ENST00000337299.6_Missense_Mutation_p.E934K|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1003	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTGCCGGGCTCACCCTGGAGG	0.647000													16	21					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369297	20369297	+	RNA	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr19:20369297G>A	ENST00000593655.1	-	0	199																											GGGATGACACGAAACACCTGT	0.378000													19	118					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7221241	7221241	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:7221241G>A	ENST00000575474.1	-	5	511	c.512C>T	c.(511-513)tCa>tTa	p.S171L	NEURL4_ENST00000570460.1_Silent_p.F1333F|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000399464.2_Silent_p.F1357F|NEURL4_ENST00000315614.7_Silent_p.F1355F																							GCGGAGGCATGAAATAATCTT	0.612000													19	67					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59166440	59166440	+	Missense_Mutation	SNP	G	G	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr18:59166440G>A	ENST00000262717.4	+	3	666	c.268G>A	c.(268-270)Gga>Aga	p.G90R	CDH20_ENST00000538374.1_Missense_Mutation_p.G90R|CDH20_ENST00000536675.2_Missense_Mutation_p.G90R			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	90	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TATGGACAGGGGAGACGGATC	0.468000													9	21					0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75623074	75623074	+	Missense_Mutation	SNP	C	C	T			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr11:75623074C>T	ENST00000356136.3	+	6	825	c.584C>T	c.(583-585)tCt>tTt	p.S195F	UVRAG_ENST00000525872.1_3'UTR|UVRAG_ENST00000528420.1_Missense_Mutation_p.S94F	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	195					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GATGTCTTCTCTTTGCTACGG	0.358000													23	45					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79831985	79831987	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr4:79831985_79831987delGAA	ENST00000335016.5	+	16	2450_2452	c.2284_2286delGAA	c.(2284-2286)del	p.E763del	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	763						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GCAAGATGATGAAGAAGTTCTTC	0.429													16	29	---	---	---	---					
CTD-2503O16.4	0	broad.mit.edu	37	5	74285945	74285946	+	RNA	INS	-	-	TTT	rs138935859		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr5:74285945_74285946insTTT	ENST00000505200.1	-	0	212																											taattgctttcttttttttttt	0.381													3	4	---	---	---	---					
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)gctfs	p.A88fs	B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000418555.2_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589													7	156	---	---	---	---					
PAFAH1B1	5048	broad.mit.edu	37	17	2569346	2569347	+	Frame_Shift_Ins	INS	-	-	A	rs113994199		TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr17:2569346_2569347insA	ENST00000397195.5	+	4	605_606	c.154_155insA	c.(154-156)aaafs	p.K52fs		NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	52	Interaction with NDE1 (By similarity).|Interaction with NDEL1 (By similarity).				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGGTCTTTTGGAAAAAAAATGG	0.243													2	4	---	---	---	---					
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr18:61388270_61388271delAC	ENST00000544088.1	+	0	836				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386													2	4	---	---	---	---					
KLHDC7B	113730	broad.mit.edu	37	22	50987322	50987323	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D9-A6E9-06A-12D-A30X-08	TCGA-D9-A6E9-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a52dcabd-e4d1-4cab-a296-757157065dcc	0218f5a6-873b-4ec7-8e09-950a6c24499d	g.chr22:50987322_50987323insA	ENST00000395676.2	+	1	861_862	c.727_728insA	c.(727-729)cgcfs	p.R243fs		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	243										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGAGACCTACGCGCTGATG	0.728													8	7	---	---	---	---