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
FLG	2312	broad.mit.edu	37	1	152275730	152275730	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:152275730T>A	ENST00000368799.1	-	3	11667	c.11632A>T	c.(11632-11634)Agg>Tgg	p.R3878W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3878	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3878W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGATCGCCTCTCAGAGTCC	0.592000									Ichthyosis				67	422					0	0	0.003610	0	0
SLC12A9	56996	broad.mit.edu	37	7	100454798	100454798	+	Splice_Site	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:100454798G>T	ENST00000354161.3	+	5	882	c.757_splice	c.e5+1	p.A253_splice	SLC12A9_ENST00000415287.1_Splice_Site_p.A164_splice|SLC12A9_ENST00000275729.3_Splice_Site_p.A164_splice|SLC12A9_ENST00000540482.1_Splice_Site_p.A253_splice|SLC12A9_ENST00000428758.1_Splice_Site_p.A253_splice	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	253						integral to membrane|plasma membrane	cation:chloride symporter activity	p.A253S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAACTTGGGCGGTGAGCTGGG	0.657000													44	60					1.61863e-15	4.75639e-15	0.003610	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136344	40136344	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:40136344G>T	ENST00000278198.2	-	2	3462	c.1499C>A	c.(1498-1500)tCg>tAg	p.S500*	LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.S500*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.S500*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.S500*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	500					regulation of axonogenesis	integral to membrane	protein binding	p.S500*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTTCTCTGTCGACCTTGTGCT	0.493000													20	11					1.33834e-09	3.43001e-09	0.000958	1	0
TTLL11	158135	broad.mit.edu	37	9	124751870	124751870	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:124751870G>C	ENST00000321582.5	-	4	1330	c.1143C>G	c.(1141-1143)atC>atG	p.I381M	TTLL11_ENST00000373776.3_Missense_Mutation_p.I381M|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	381	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.I381M(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						TGAGCTTGTCGATAAGGAGAG	0.488000													24	93					0	0	0.002780	0	0
GPR151	134391	broad.mit.edu	37	5	145894611	145894611	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:145894611G>T	ENST00000311104.2	-	1	1142	c.1066C>A	c.(1066-1068)Cca>Aca	p.P356T		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	356						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P356T(1)		endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGATGCTGGGGATTCTGGA	0.493000													33	32					1.62565e-12	4.53067e-12	0.002445	1	0
TRBV19	28568	broad.mit.edu	37	7	142326540	142326540	+	RNA	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:142326540C>A	ENST00000390393.3	+	0	178																											CCAACAAGTGCTTGGAGCTCC	0.542000													28	48					3.65163e-15	1.06299e-14	0.001061	1	0
C8orf76	84933	broad.mit.edu	37	8	124243670	124243670	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:124243670C>A	ENST00000276704.4	-	4	736	c.685G>T	c.(685-687)Gaa>Taa	p.E229*	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Nonsense_Mutation_p.E197*	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	229							binding	p.E229*(1)		NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTATTCGCTTCCACAGAAAAT	0.388000													57	36					6.3008e-33	2.22497e-32	0.003610	1	0
TNFSF14	8740	broad.mit.edu	37	19	6665094	6665094	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:6665094C>A	ENST00000326176.9	-	5	839	c.458G>T	c.(457-459)cGg>cTg	p.R153L	TNFSF14_ENST00000245912.3_Missense_Mutation_p.R153L|TNFSF14_ENST00000599359.1_Missense_Mutation_p.R189L	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	189					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.R189L(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GCTGGTGGCCCGTCCGCAGGG	0.667000													17	8					1.5739e-10	4.16246e-10	0.004007	1	0
ATP1A4	480	broad.mit.edu	37	1	160128798	160128798	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:160128798C>A	ENST00000368081.4	+	5	1003	c.532C>A	c.(532-534)Ctg>Atg	p.L178M		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	178					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.L178M(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATAGCAAGCTCTGGTAATTCG	0.478000													15	174					2.35188e-11	6.27337e-11	0.006122	1	0
PTPRD	5789	broad.mit.edu	37	9	8486184	8486184	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:8486184T>A	ENST00000381196.4	-	25	3176	c.2633A>T	c.(2632-2634)gAt>gTt	p.D878V	PTPRD_ENST00000360074.4_Missense_Mutation_p.D865V|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D878V|PTPRD_ENST00000540109.1_Missense_Mutation_p.D878V|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.D856V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	878	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D878V(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTAAAGTGATCTTCTTTTTC	0.483000										TSP Lung(15;0.13)			14	55					0	0	0.003163	0	0
CSMD1	64478	broad.mit.edu	37	8	2813189	2813189	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:2813189A>G	ENST00000520002.1	-	65	10474	c.9919T>C	c.(9919-9921)Ttt>Ctt	p.F3307L	CSMD1_ENST00000602723.1_Missense_Mutation_p.F3130L|CSMD1_ENST00000400186.3_Missense_Mutation_p.F3130L|CSMD1_ENST00000602557.1_Missense_Mutation_p.F3307L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F3129L|CSMD1_ENST00000537824.1_Missense_Mutation_p.F3306L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3307	Sushi 28.					integral to membrane		p.F3306L(1)|p.F3035L(1)		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)		GCGAGGAAAAAGCCTGGATGG	0.507000													3	63					0	0	0.000602	0	0
GLI1	2735	broad.mit.edu	37	12	57864343	57864343	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:57864343C>T	ENST00000228682.2	+	12	1911	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F	GLI1_ENST00000543426.1_Missense_Mutation_p.S479F|GLI1_ENST00000546141.1_Missense_Mutation_p.S566F	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	607					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.S607F(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACTGCAGCATCCAGCCTGGAT	0.612000													15	21					0	0	0.003163	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561633	84561633	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:84561633G>T	ENST00000286744.5	+	13	1684	c.1460G>T	c.(1459-1461)tGg>tTg	p.W487L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.W487L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	487	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.W487F(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCATGGAGTGGTCTCAGGTA	0.408000													19	11					8.04996e-18	2.48908e-17	0.001882	1	0
TMTC1	83857	broad.mit.edu	37	12	29911708	29911708	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:29911708C>A	ENST00000256062.5	-	3	632	c.159G>T	c.(157-159)gtG>gtT	p.V53V	TMTC1_ENST00000551659.1_Silent_p.V161V|TMTC1_ENST00000381224.2_Silent_p.V53V|TMTC1_ENST00000552618.1_Silent_p.V161V|TMTC1_ENST00000539277.1_Silent_p.V161V	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	161						integral to membrane	binding	p.V53V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CGATCCCAGCCACCTTGGAAG	0.378000													73	26					3.80207e-26	1.28423e-25	0.003610	1	0
G6PC2	57818	broad.mit.edu	37	2	169764212	169764212	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:169764212G>T	ENST00000375363.3	+	5	783	c.691G>T	c.(691-693)Gac>Tac	p.D231Y	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_3'UTR|G6PC2_ENST00000429379.2_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	231					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	p.D231Y(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GCTCAACATTGACCTGCTGTG	0.522000													59	43					3.28615e-30	1.14417e-29	0.003610	1	0
STAB2	55576	broad.mit.edu	37	12	104067855	104067855	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:104067855G>T	ENST00000388887.2	+	23	2746	c.2542G>T	c.(2542-2544)Ggg>Tgg	p.G848W		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	848	EGF-like 7.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G848W(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATACAGCAATGGGACAGCCAG	0.542000													28	81					3.73148e-12	1.02616e-11	0.001271	1	0
POLR3A	11128	broad.mit.edu	37	10	79784767	79784767	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:79784767C>A	ENST00000372371.3	-	4	589	c.452G>T	c.(451-453)cGg>cTg	p.R151L		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	151					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.R151L(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTTTTTCTTCCGGCACTTGTC	0.463000													47	58					1.83081e-24	6.08474e-24	0.003610	1	0
NEB	4703	broad.mit.edu	37	2	152499151	152499151	+	Nonsense_Mutation	SNP	A	A	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:152499151A>C	ENST00000427231.2	-	60	8512	c.8310T>G	c.(8308-8310)taT>taG	p.Y2770*	NEB_ENST00000603639.1_Nonsense_Mutation_p.Y2770*|NEB_ENST00000172853.10_Nonsense_Mutation_p.Y2770*|NEB_ENST00000409198.1_Nonsense_Mutation_p.Y2770*|NEB_ENST00000397345.3_Nonsense_Mutation_p.Y2770*|NEB_ENST00000604864.1_Nonsense_Mutation_p.Y2770*	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2770					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	p.Y2770*(2)		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)		CCCGCATGTCATAACCTTTCC	0.378000													17	44					0	0	0.004007	0	0
MUS81	80198	broad.mit.edu	37	11	65629749	65629749	+	Splice_Site	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:65629749G>A	ENST00000308110.4	+	5	867	c.519_splice	c.e5+1	p.R173_splice	MUS81_ENST00000533035.1_Splice_Site_p.R98_splice	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	173	Interaction with BLM.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	p.R173K(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		AAGTCCCCCAGGGTGAGCACA	0.577000								Homologous recombination					7	38					0	0	0.003080	0	0
PCDH12	51294	broad.mit.edu	37	5	141325308	141325308	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:141325308G>A	ENST00000231484.3	-	4	4403	c.3193C>T	c.(3193-3195)Ctc>Ttc	p.L1065F		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1065					neuron recognition	integral to plasma membrane	calcium ion binding	p.L1065F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTGGTGAGGGGCAAAGAG	0.652000													18	39					0	0	0.006122	0	0
PDHA2	5161	broad.mit.edu	37	4	96762102	96762102	+	Silent	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:96762102A>G	ENST00000295266.4	+	1	864	c.801A>G	c.(799-801)gcA>gcG	p.A267A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	267					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.A267E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CAAAATTTGCAGCTAACTACT	0.473000													19	47					0	0	0.000958	0	0
RAB34	83871	broad.mit.edu	37	17	27042267	27042267	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:27042267C>T	ENST00000395245.3	-	7	1085	c.459G>A	c.(457-459)gaG>gaA	p.E153E	RAB34_ENST00000453384.3_Silent_p.E211E|RAB34_ENST00000395242.2_Silent_p.E154E|RAB34_ENST00000450529.1_Silent_p.E153E|RAB34_ENST00000447716.1_Silent_p.E210E|RAB34_ENST00000395243.3_Silent_p.E153E|RAB34_ENST00000436730.3_Silent_p.E153E|RAB34_ENST00000415040.2_Silent_p.E131E|RAB34_ENST00000301043.6_Silent_p.E153E	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	153					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	p.E153E(1)|p.E211E(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					AAGGGTCATTCTCCTTCAGGG	0.567000													14	13					0	0	0.002450	0	0
HOXA3	3200	broad.mit.edu	37	7	27148287	27148287	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:27148287G>T	ENST00000396352.4	-	3	778	c.579C>A	c.(577-579)cgC>cgA	p.R193R	HOXA3_ENST00000317201.2_Silent_p.R193R|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	193					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R193R(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCGTGCGCGCGCGCTTGGACG	0.697000													10	48					7.48243e-07	1.76149e-06	0.000443	1	0
ARL9	132946	broad.mit.edu	37	4	57377510	57377510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:57377510G>T	ENST00000360096.2	+	2	327	c.13G>T	c.(13-15)Gag>Tag	p.E5*		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	69							GTP binding	p.E80*(1)		lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					GGAGTTCCTGGAGAGTAAGCT	0.438000													9	42					1.08611e-07	2.60122e-07	0.000978	1	0
HECTD4	283450	broad.mit.edu	37	12	112638548	112638548	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:112638548G>A	ENST00000550722.1	-	55	8418	c.8023C>T	c.(8023-8025)Cga>Tga	p.R2675*	HECTD4_ENST00000430131.2_Nonsense_Mutation_p.R2399*|HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R2649*	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.R2399*(1)|p.R2649*(1)									TACCAGTATCGCACCAGCACA	0.478000													14	87					0	0	0.004007	0	0
FLRT3	23767	broad.mit.edu	37	20	14307564	14307564	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:14307564C>A	ENST00000378053.3	-	2	845	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.G197C	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	197					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.G197C(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTAGTGAGACCTTGAAGAGAT	0.408000													26	52					1.66031e-10	4.36313e-10	0.003954	1	0
SSX5	6758	broad.mit.edu	37	X	48054775	48054775	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:48054775A>C	ENST00000311798.1	-	2	72	c.20T>G	c.(19-21)tTt>tGt	p.F7C	SSX5_ENST00000376923.1_Missense_Mutation_p.F7C|SSX5_ENST00000347757.1_Missense_Mutation_p.F7C	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.F7C(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCTCCGTACAAAGGCATCGTC	0.547000													5	199					0	0	0.001984	0	0
RAP1A	5906	broad.mit.edu	37	1	112234014	112234014	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:112234014C>T	ENST00000369709.3	+	2	211	c.32C>T	c.(31-33)tCa>tTa	p.S11L	RAP1A_ENST00000356415.1_Missense_Mutation_p.S11L|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000436150.2_Missense_Mutation_p.S11L|RAP1A_ENST00000545460.1_Missense_Mutation_p.S11L	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	11					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity	p.S11L(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GTCCTTGGTTCAGGAGGCGTT	0.368000													14	43					0	0	0.003163	0	0
RYK	6259	broad.mit.edu	37	3	133910783	133910783	+	Silent	SNP	T	T	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:133910783T>G	ENST00000427044.2	-	9	968	c.358A>C	c.(358-360)Aga>Cga	p.R120R	RYK_ENST00000296084.4_Silent_p.R310R			P34925	RYK_HUMAN	receptor-like tyrosine kinase	306	WIF.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R310R(1)		lung(1)|ovary(3)	4						GTGACACTTCTCAAGTCGTTC	0.393000													27	23					0	0	0.003954	0	0
WIPF1	7456	broad.mit.edu	37	2	175436859	175436859	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:175436859T>A	ENST00000392547.2	-	5	773	c.674A>T	c.(673-675)aAc>aTc	p.N225I	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.N225I|WIPF1_ENST00000409891.1_Missense_Mutation_p.N225I|WIPF1_ENST00000359761.3_Missense_Mutation_p.N225I|WIPF1_ENST00000272746.5_Missense_Mutation_p.N225I|WIPF1_ENST00000409415.3_Missense_Mutation_p.N225I|AC018890.6_ENST00000412835.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	225					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.N225I(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AGTGCCGCGGTTTCCAGGGAA	0.682000													13	57					0	0	0.001855	0	0
GJA1	2697	broad.mit.edu	37	6	121768117	121768117	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:121768117G>T	ENST00000282561.3	+	2	281	c.124G>T	c.(124-126)Gag>Tag	p.E42*		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	42					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.E42*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GACAGCGGTTGAGTCAGCCTG	0.493000													52	52					2.01872e-29	6.97018e-29	0.003610	1	0
NPTXR	23467	broad.mit.edu	37	22	39224385	39224385	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr22:39224385G>A	ENST00000333039.2	-	2	880	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	253						integral to membrane	metal ion binding	p.R253C(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGGGCCACACGCTCCTTCTCC	0.667000													7	5					0	0	0.004482	0	0
FNDC3B	64778	broad.mit.edu	37	3	171965470	171965470	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:171965470C>T	ENST00000336824.4	+	5	511	c.412C>T	c.(412-414)Cac>Tac	p.H138Y	FNDC3B_ENST00000416957.1_Missense_Mutation_p.H138Y|FNDC3B_ENST00000415807.2_Missense_Mutation_p.H138Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	138						endoplasmic reticulum|integral to membrane		p.H138Y(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TCATAACTCACACACGGCTTA	0.502000													31	117					0	0	0.003755	0	0
SPON1	10418	broad.mit.edu	37	11	14101549	14101549	+	RNA	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:14101549C>A	ENST00000310358.7	+	0	1193							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	p.H219N(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CGAGAAGACACACCCAAAGGA	0.488000													15	18					1.15088e-07	2.75104e-07	0.004007	1	0
KMT2D	8085	broad.mit.edu	37	12	49432397	49432397	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:49432397G>T	ENST00000301067.7	-	34	8741	c.8742C>A	c.(8740-8742)caC>caA	p.H2914Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.H2914Q(1)|p.H2644Q(1)									GAGCCAGTCGGTGGGGGTCCT	0.602000													24	46					7.41945e-09	1.85561e-08	0.005443	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33630891	33630891	+	Silent	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:33630891T>A	ENST00000504830.1	-	13	2351	c.2016A>T	c.(2014-2016)atA>atT	p.I672I	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	672	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.I672I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATACCTTACATATGCCATTAA	0.388000										HNSCC(64;0.19)			33	123					0	0	0.003271	0	0
SV2B	9899	broad.mit.edu	37	15	91801710	91801710	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:91801710G>A	ENST00000394232.1	+	5	1314	c.844G>A	c.(844-846)Gtc>Atc	p.V282I	SV2B_ENST00000545111.2_Missense_Mutation_p.V131I|SV2B_ENST00000330276.4_Missense_Mutation_p.V282I	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	282					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.V282I(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTTTGTCATCGTCTGTGCTCT	0.542000													17	39					0	0	0.006122	0	0
UBE3A	7337	broad.mit.edu	37	15	25620797	25620797	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:25620797C>A	ENST00000232165.3	-	5	832	c.176G>T	c.(175-177)cGt>cTt	p.R59L	UBE3A_ENST00000438097.1_Missense_Mutation_p.R39L|UBE3A_ENST00000428984.2_Missense_Mutation_p.R39L|UBE3A_ENST00000397954.2_Missense_Mutation_p.R62L|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Missense_Mutation_p.R39L	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	62					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.R62L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATTATCCATACGAAGAAAAGT	0.433000													26	49					2.79863e-10	7.32358e-10	0.004656	1	0
UBA7	7318	broad.mit.edu	37	3	49850106	49850106	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:49850106G>C	ENST00000333486.3	-	5	691	c.533C>G	c.(532-534)aCa>aGa	p.T178R	UBA7_ENST00000494212.1_Intron	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	178	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	p.T178R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GATGGCAGCTGTCAGGGGTTC	0.602000													9	24					0	0	0.000443	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	RNA	SNP	C	C	T	rs111700178	by1000genomes	TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:1593264C>T	ENST00000436493.2	-	0	361																											AGGGCACATGCCTGACCAAAG	0.557000													4	70					0	0	0.003080	0	0
BAIAP3	8938	broad.mit.edu	37	16	1388961	1388961	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:1388961G>A	ENST00000324385.5	+	3	453	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	BAIAP3_ENST00000426824.3_Missense_Mutation_p.E64K|BAIAP3_ENST00000421665.2_Missense_Mutation_p.E64K|BAIAP3_ENST00000397489.1_Missense_Mutation_p.E64K|BAIAP3_ENST00000397488.2_Missense_Mutation_p.E64K|BAIAP3_ENST00000562208.1_Missense_Mutation_p.E64K|BAIAP3_ENST00000568887.1_Missense_Mutation_p.E64K	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	99					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.E99K(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GAAGAAGGGGGAAGGCAGACA	0.652000													12	52					0	0	0.001368	0	0
KIF5C	3800	broad.mit.edu	37	2	149857288	149857288	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:149857288G>T	ENST00000435030.1	+	21	2733	c.2365G>T	c.(2365-2367)Gag>Tag	p.E789*	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Nonsense_Mutation_p.E694*|KIF5C_ENST00000397413.1_Nonsense_Mutation_p.E557*			O60282	KIF5C_HUMAN	kinesin family member 5C	789					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.E692*(1)|p.E789*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGGGCTGGAGGAGACAGTGGT	0.413000													69	65					1.45978e-39	5.30558e-39	0.003610	1	0
MYO16	23026	broad.mit.edu	37	13	109475515	109475515	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr13:109475515C>A	ENST00000356711.2	+	9	1046	c.920C>A	c.(919-921)gCc>gAc	p.A307D	MYO16_ENST00000357550.2_Missense_Mutation_p.A307D|MYO16_ENST00000251041.5_Missense_Mutation_p.A307D	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	307					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.A307D(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTGCTGAAAGCCGAAATTGCC	0.388000													65	47					5.00936e-31	1.75894e-30	0.003610	1	0
KIAA1109	84162	broad.mit.edu	37	4	123161126	123161126	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:123161126G>T	ENST00000264501.4	+	29	4662	c.4289G>T	c.(4288-4290)aGg>aTg	p.R1430M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R1430M|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R1430M			Q2LD37	K1109_HUMAN	KIAA1109	1430					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.R1430M(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GACTACAGTAGGGGTTCCATA	0.458000													7	48					0.00198382	0.004208	0.001984	1	0
PYGM	5837	broad.mit.edu	37	11	64521068	64521068	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:64521068C>T	ENST00000164139.3	-	11	1724	c.1326G>A	c.(1324-1326)atG>atA	p.M442I	PYGM_ENST00000377432.3_Missense_Mutation_p.M354I	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	442					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.M442_A443>IS(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ACAGGTGTGCCATGTTGATGC	0.667000													6	12					0	0	0.001168	0	0
HECTD3	79654	broad.mit.edu	37	1	45469348	45469348	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:45469348A>G	ENST00000372172.4	-	20	2565	c.2494T>C	c.(2494-2496)Tat>Cat	p.Y832H	HECTD3_ENST00000372168.3_Missense_Mutation_p.Y442H|HECTD3_ENST00000486132.1_5'UTR	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	832	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	p.Y832H(1)|p.Y442H(1)|p.Y548H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CACCTGGCATAGTGTGGCAGG	0.592000													3	55					0	0	0.004672	0	0
NUP160	23279	broad.mit.edu	37	11	47826139	47826139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:47826139C>A	ENST00000378460.2	-	21	2684	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*	NUP160_ENST00000530326.1_Nonsense_Mutation_p.E766*|NUP160_ENST00000528071.1_Nonsense_Mutation_p.E766*	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	880					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.E880*(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ATCAAACATTCTAGAAAGAGA	0.348000													23	83					1.1804e-14	3.40425e-14	0.003954	1	0
ELMOD1	55531	broad.mit.edu	37	11	107521059	107521059	+	Splice_Site	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:107521059A>G	ENST00000265840.7	+	8	819		c.e8-1		ELMOD1_ENST00000531234.1_Splice_Site|ELMOD1_ENST00000443271.2_Splice_Site	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1						phagocytosis	cytoskeleton	GTPase activator activity	p.?(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CTCCCGCTGCAGGTATTTCGC	0.423000													7	1					0	0	0.003080	0	0
OPCML	4978	broad.mit.edu	37	11	132307167	132307167	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:132307167A>C	ENST00000331898.7	-	4	1191	c.613T>G	c.(613-615)Ttg>Gtg	p.L205V	OPCML_ENST00000374778.4_Missense_Mutation_p.L164V|OPCML_ENST00000524381.1_Missense_Mutation_p.L198V|OPCML_ENST00000541867.1_Missense_Mutation_p.L205V|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	205	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.L198V(1)|p.L205V(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ACATCGTTCAACGCGCTGCAT	0.542000													36	18					0	0	0.003755	0	0
ZNF518B	85460	broad.mit.edu	37	4	10447805	10447805	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:10447805C>A	ENST00000326756.3	-	3	586	c.148G>T	c.(148-150)Gca>Tca	p.A50S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A50S(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GCAGCCTCTGCCTCTGAGCCT	0.463000													94	157					6.79372e-55	2.50581e-54	0.003610	1	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139360	90139360	+	RNA	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:90139360C>A	ENST00000492446.1	+	0	158																											GTCACCATCACTTGTCGGGCG	0.488000													104	114					1.84813e-57	6.85739e-57	0.003610	1	0
KIAA0319L	79932	broad.mit.edu	37	1	35972379	35972379	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:35972379C>A	ENST00000325722.3	-	3	734	c.500G>T	c.(499-501)aGa>aTa	p.R167I		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	167						cytoplasmic vesicle part|integral to membrane	protein binding	p.R167I(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGTGCAGCTCTGGGTGGGCT	0.502000													46	41					5.20006e-24	1.71906e-23	0.002852	1	0
PRSS21	10942	broad.mit.edu	37	16	2871423	2871423	+	Silent	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:2871423A>G	ENST00000455114.1	+	6	862	c.756A>G	c.(754-756)ggA>ggG	p.G252G	PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000450020.3_Silent_p.G240G|PRSS21_ENST00000005995.3_Silent_p.G254G	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	254	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity	p.G254G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						ATCAGATTGGAGTCGTGAGCT	0.597000													6	32					0	0	0.001984	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512651	68512651	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:68512651G>T	ENST00000370981.1	-	4	966	c.330C>A	c.(328-330)caC>caA	p.H110Q	DIRAS3_ENST00000395201.1_Missense_Mutation_p.H110Q|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	110					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.H110Q(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGACGAAGGCGTGGCCCCGGG	0.577000													35	150					1.836e-18	5.74849e-18	0.003755	1	0
SPTA1	6708	broad.mit.edu	37	1	158641186	158641186	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:158641186G>T	ENST00000368148.3	-	12	1726	c.1546C>A	c.(1546-1548)Cag>Aag	p.Q516K	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q516K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	516					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q516K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATGCTTCTGAAGAAGGGCT	0.488000													133	28					1.81449e-70	6.79342e-70	0.003610	1	0
ZNF816	125893	broad.mit.edu	37	19	53454623	53454623	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:53454623C>G	ENST00000357666.4	-	5	705	c.405G>C	c.(403-405)ttG>ttC	p.L135F	ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000391786.2_3'UTR|ZNF816_ENST00000444460.2_Missense_Mutation_p.L135F	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L135F(1)|p.L135L(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TACTACCAGTCAACTTTTTGA	0.413000													105	82					0	0	0.003610	0	0
SPTAN1	6709	broad.mit.edu	37	9	131344978	131344978	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:131344978G>C	ENST00000358161.5	+	14	1769	c.1656G>C	c.(1654-1656)ttG>ttC	p.L552F	SPTAN1_ENST00000372739.3_Missense_Mutation_p.L552F|SPTAN1_ENST00000372731.4_Missense_Mutation_p.L552F			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	552					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.L552F(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTCAGCTGTTGAGCCGCCGCA	0.507000													14	61					0	0	0.003163	0	0
ZFP90	146198	broad.mit.edu	37	16	68597524	68597524	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:68597524G>T	ENST00000570495.1	+	5	1126	c.834G>T	c.(832-834)ggG>ggT	p.G278G	ZFP90_ENST00000563169.2_Silent_p.G278G|ZFP90_ENST00000398253.2_Silent_p.G278G|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	278					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G278G(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TTCACACTGGGGAGAAACCCT	0.448000													32	74					1.74807e-11	4.68287e-11	0.002096	1	0
LCA5L	150082	broad.mit.edu	37	21	40777865	40777865	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr21:40777865C>T	ENST00000358268.2	-	10	2484	c.1956G>A	c.(1954-1956)gtG>gtA	p.V652V	LCA5L_ENST00000288350.3_Silent_p.V652V|LCA5L_ENST00000380671.2_Silent_p.V652V|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	652								p.V652V(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TAGAATTTACCACAGTTACTT	0.408000													42	54					0	0	0.002222	0	0
VWA9	81556	broad.mit.edu	37	15	65890720	65890720	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:65890720G>A	ENST00000395644.4	-	6	1022	c.687C>T	c.(685-687)ccC>ccT	p.P229P	VWA9_ENST00000431261.2_Silent_p.P150P|VWA9_ENST00000313182.2_Silent_p.P229P|VWA9_ENST00000567744.1_Silent_p.P265P|VWA9_ENST00000569491.1_Silent_p.P180P|VWA9_ENST00000420799.2_Silent_p.P172P|VWA9_ENST00000442903.3_Silent_p.P193P					von Willebrand factor A domain containing 9									p.P229P(1)									GTTCTGGCCTGGGGAAGACTT	0.353000													32	22					0	0	0.003271	0	0
MED17	9440	broad.mit.edu	37	11	93528177	93528177	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:93528177A>T	ENST00000251871.3	+	6	1250	c.963A>T	c.(961-963)caA>caT	p.Q321H	MED17_ENST00000533367.1_Intron	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	321					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.Q321H(1)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTAAATCACAAGTCCCTCACA	0.428000													75	118					0	0	0.003610	0	0
EN1	2019	broad.mit.edu	37	2	119600613	119600613	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:119600613T>A	ENST00000295206.6	-	2	1590	c.1080A>T	c.(1078-1080)aaA>aaT	p.K360N		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	360					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K360N(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						TGCCTGTGGCTTTCTTGATCT	0.597000													12	44					0	0	0.001368	0	0
SLC30A10	55532	broad.mit.edu	37	1	220088856	220088856	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:220088856C>A	ENST00000366926.3	-	4	1554	c.1393G>T	c.(1393-1395)Gac>Tac	p.D465Y	SLC30A10_ENST00000536446.1_Missense_Mutation_p.D220Y|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	465					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	p.D465Y(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TGTCCGTGGTCACTCAGACAG	0.448000													65	87					1.72039e-30	6.00686e-30	0.003610	1	0
NPAP1	23742	broad.mit.edu	37	15	24921349	24921349	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:24921349G>T	ENST00000329468.2	+	1	809	c.335G>T	c.(334-336)aGt>aTt	p.S112I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S112I(1)									GGACACCCCAGTTCCGTAAGG	0.667000													13	36					2.61681e-11	6.95021e-11	0.002450	1	0
GPCPD1	56261	broad.mit.edu	37	20	5556162	5556162	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:5556162C>T	ENST00000379019.4	-	10	1110	c.898G>A	c.(898-900)Gga>Aga	p.G300R	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	300					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	p.G300R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						CAACTGTATCCTGGTAATGGC	0.353000													23	20					0	0	0.002299	0	0
SVIL	6840	broad.mit.edu	37	10	29820930	29820930	+	Splice_Site	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:29820930C>T	ENST00000375398.2	-	11	2459		c.e11+1		SVIL_ENST00000355867.4_Splice_Site|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin						cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.?(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGCATGCCTACCTATCCGATT	0.448000													48	125					0	0	0.003610	0	0
ALPK3	57538	broad.mit.edu	37	15	85383197	85383197	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:85383197G>T	ENST00000258888.5	+	5	1460	c.1293G>T	c.(1291-1293)ggG>ggT	p.G431G		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	431					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.G431G(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATTGAGCGGGGCTCAAGCGC	0.672000													7	10					5.18039e-06	1.18586e-05	0.003080	1	0
TACC3	10460	broad.mit.edu	37	4	1729567	1729567	+	Silent	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:1729567A>T	ENST00000313288.4	+	4	544	c.438A>T	c.(436-438)ccA>ccT	p.P146P		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	146						centrosome		p.P146P(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGTCTGGCCCAGGTGCCCTGG	0.587000													67	98					0	0	0.003610	0	0
TMEM2	23670	broad.mit.edu	37	9	74319588	74319588	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:74319588C>A	ENST00000377044.4	-	18	3656	c.3117G>T	c.(3115-3117)atG>atT	p.M1039I	TMEM2_ENST00000396272.3_Missense_Mutation_p.M32I|TMEM2_ENST00000377066.5_Missense_Mutation_p.M976I	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1039						integral to membrane		p.M1039I(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCTTCTCCAGCATGACGACAG	0.463000													49	39					9.52127e-25	3.19001e-24	0.003610	1	0
DEFB119	245932	broad.mit.edu	37	20	29977020	29977020	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:29977020C>A	ENST00000376315.2	-	2	74	c.75G>T	c.(73-75)atG>atT	p.M25I	DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000492344.1_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	31					defense response to bacterium	extracellular region		p.M25I(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGTGTCCATCCATCCAACACT	0.463000													57	94					3.95532e-38	1.42094e-37	0.003610	1	0
CYP2B6	1555	broad.mit.edu	37	19	41522587	41522587	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:41522587C>A	ENST00000324071.4	+	9	1338	c.1331C>A	c.(1330-1332)gCg>gAg	p.A444E	CYP2B6_ENST00000330446.5_Missense_Mutation_p.A244E|CYP2B6_ENST00000593831.1_Missense_Mutation_p.A208E	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	444					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A444E(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ATCGCCCGTGCGGAATTGTTC	0.577000													20	6					1.10513e-12	3.08692e-12	0.002299	1	0
TP53	7157	broad.mit.edu	37	17	7574000	7574000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:7574000C>A	ENST00000269305.4	-	10	1216	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E343*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	343	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> G (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E343*(8)|p.0?(8)|p.R342_N345delRELN(1)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCATTCAGCTCTCGGAACATC	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	14					1.3612e-06	3.17444e-06	0.003163	1	0
CCNB3	85417	broad.mit.edu	37	X	50051710	50051710	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:50051710T>A	ENST00000376042.1	+	6	839	c.541T>A	c.(541-543)Tgc>Agc	p.C181S	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.C181S			Q8WWL7	CCNB3_HUMAN	cyclin B3	181					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.C181S(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTTAAAAAAGTGCTCAAATCA	0.413000													42	25					0	0	0.001485	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39498048	39498048	+	Splice_Site	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr22:39498048G>A	ENST00000442487.3	+	4	670		c.e4+1		APOBEC3H_ENST00000348946.4_Splice_Site|APOBEC3H_ENST00000401756.1_Splice_Site|APOBEC3H_ENST00000421988.2_Intron	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H						DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	p.?(1)		central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					GAGGATAAAGGTGAGGCACTG	0.552000													5	6					0	0	0.004482	0	0
MXRA5	25878	broad.mit.edu	37	X	3261706	3261706	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:3261706C>G	ENST00000217939.6	-	2	323	c.169G>C	c.(169-171)Gtg>Ctg	p.V57L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	57						extracellular region		p.V57L(2)		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)				ATTCTTTCCACGTGTTTAGCA	0.562000													5	8					0	0	0.000602	0	0
CLDN4	1364	broad.mit.edu	37	7	73245979	73245979	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:73245979C>T	ENST00000435050.1	+	2	3128	c.448C>T	c.(448-450)Ccg>Tcg	p.P150S	CLDN4_ENST00000431918.1_Missense_Mutation_p.P150S|CLDN4_ENST00000340958.2_Missense_Mutation_p.P150S			O14493	CLD4_HUMAN	claudin 4	150					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	p.P150S(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				CTTCTACAATCCGCTGGTGGC	0.652000													28	26					0	0	0.002096	0	0
KCNT2	343450	broad.mit.edu	37	1	196311317	196311317	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:196311317C>A	ENST00000367433.5	-	15	1546	c.1445G>T	c.(1444-1446)gGt>gTt	p.G482V	KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000451324.2_Missense_Mutation_p.G93V|KCNT2_ENST00000294725.8_Missense_Mutation_p.G482V|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	482	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.G482L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGAGCATCTACCGTACATCTT	0.418000													12	52					2.32078e-09	5.92348e-09	0.003163	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55331451	55331451	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:55331451G>A	ENST00000391728.4	+	4	672	c.639G>A	c.(637-639)ctG>ctA	p.L213L	KIR3DL1_ENST00000326542.7_Silent_p.L213L|KIR3DL1_ENST00000358178.4_Silent_p.L118L|KIR3DL1_ENST00000541392.1_Silent_p.L213L|KIR3DL1_ENST00000538269.1_Silent_p.L213L|KIR3DL1_ENST00000402254.2_Silent_p.L213L	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.L213L(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGATCCCCTGGACATCGTGG	0.532000													68	37					0	0	0.003610	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161582	90161582	+	RNA	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:90161582C>A	ENST00000564451.1	+	0	935				TUBB8P7_ENST00000567960.1_RNA														p.Y106*(1)									AGGGACGCTACACCGAAGGCG	0.597000													8	21					1.26484e-09	3.24835e-09	0.003080	1	0
MAPK9	5601	broad.mit.edu	37	5	179668120	179668120	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:179668120C>G	ENST00000452135.2	-	9	1205	c.907G>C	c.(907-909)Gtg>Ctg	p.V303L	MAPK9_ENST00000343111.6_Missense_Mutation_p.V303L|MAPK9_ENST00000393360.3_Missense_Mutation_p.V303L|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.V303L|MAPK9_ENST00000347470.4_Missense_Mutation_p.V218L			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	303	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	p.V303L(3)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGATCAATCACTAACATTTTT	0.408000													101	125					0	0	0.003610	0	0
BOC	91653	broad.mit.edu	37	3	113003705	113003705	+	Splice_Site	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:113003705G>A	ENST00000495514.1	+	18	3667	c.2963_splice	c.e18+1	p.R988_splice	BOC_ENST00000273395.4_Splice_Site_p.R989_splice|BOC_ENST00000355385.3_Splice_Site_p.R988_splice			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	988					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.R988K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CAGATCACGAGGTAACCAGGC	0.542000													17	50					0	0	0.006122	0	0
CD109	135228	broad.mit.edu	37	6	74407275	74407275	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:74407275C>G	ENST00000437994.2	+	2	658	c.227C>G	c.(226-228)gCa>gGa	p.A76G	CD109_ENST00000422508.2_Missense_Mutation_p.A76G|CD109_ENST00000287097.5_Missense_Mutation_p.A76G	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	76						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.A76G(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCTGGAAGCAGAAGGAGTC	0.438000													23	53					0	0	0.002299	0	0
PTN	5764	broad.mit.edu	37	7	136912820	136912820	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:136912820C>T	ENST00000348225.2	-	5	881	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	PTN_ENST00000393083.2_3'UTR	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	152					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.E152K(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TTCTTAGATTCTGCTGTGATT	0.358000													80	85					0	0	0.003610	0	0
OR4A5	81318	broad.mit.edu	37	11	51412108	51412108	+	Missense_Mutation	SNP	C	C	A	rs148710182		TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:51412108C>A	ENST00000319760.6	-	1	340	c.288G>T	c.(286-288)atG>atT	p.M96I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M96I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATAGCTGGCCCATGCAACCTT	0.448000													27	22					7.07758e-08	1.71156e-07	0.004656	1	0
SLITRK1	114798	broad.mit.edu	37	13	84455038	84455038	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr13:84455038G>T	ENST00000377084.2	-	1	1490	c.605C>A	c.(604-606)cCt>cAt	p.P202H		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	202						integral to membrane		p.P202H(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CGCAATACCAGGGATTTGCTC	0.542000													21	15					1.01871e-10	2.69991e-10	0.001216	1	0
RANBP2	5903	broad.mit.edu	37	2	109352197	109352197	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:109352197G>T	ENST00000283195.6	+	5	741	c.615G>T	c.(613-615)tcG>tcT	p.S205S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	205					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.S205S(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AATGGAATTCGTGTGTTGTAC	0.423000													254	229					3.05139e-125	1.1599e-124	0.003610	1	0
HRG	3273	broad.mit.edu	37	3	186389415	186389415	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:186389415C>T	ENST00000232003.4	+	4	475	c.395C>T	c.(394-396)tCt>tTt	p.S132F		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	132	Cystatin 1.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	p.S132F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TCTCCAGTCTCTTCAGCACTG	0.438000													16	78					0	0	0.006122	0	0
INADL	10207	broad.mit.edu	37	1	62261224	62261224	+	Silent	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:62261224A>T	ENST00000371158.2	+	10	1368	c.1254A>T	c.(1252-1254)atA>atT	p.I418I	INADL_ENST00000316485.6_Silent_p.I418I	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	418	PDZ 3.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.I418I(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATGACAAAATAGTTGCTGTAA	0.378000													11	45					0	0	0.001855	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801036	185801036	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:185801036G>A	ENST00000302277.6	+	4	1507	c.913G>A	c.(913-915)Gca>Aca	p.A305T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	305						intracellular	zinc ion binding	p.A305T(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAAAAAGATGCATTATTATT	0.348000													6	45					0	0	0.001168	0	0
ZNF831	128611	broad.mit.edu	37	20	57768084	57768084	+	Silent	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:57768084A>T	ENST00000371030.2	+	1	2010	c.2010A>T	c.(2008-2010)acA>acT	p.T670T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	670						intracellular	nucleic acid binding|zinc ion binding	p.T670T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCTCAGGCACAGTCCCCACCC	0.627000													11	15					0	0	0.000978	0	0
ULK2	9706	broad.mit.edu	37	17	19699554	19699554	+	Silent	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:19699554G>C	ENST00000395544.4	-	19	2350	c.1851C>G	c.(1849-1851)tcC>tcG	p.S617S	ULK2_ENST00000361658.2_Silent_p.S617S	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	617					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	p.S617S(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTAACAGGTTGGAAGATGCTT	0.408000													31	60					0	0	0.002096	0	0
EYS	346007	broad.mit.edu	37	6	66204789	66204789	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:66204789T>A	ENST00000503581.1	-	4	1052	c.515A>T	c.(514-516)cAg>cTg	p.Q172L	EYS_ENST00000393380.2_Missense_Mutation_p.Q172L|EYS_ENST00000370616.2_Missense_Mutation_p.Q172L|EYS_ENST00000370618.3_Missense_Mutation_p.Q172L|EYS_ENST00000370621.3_Missense_Mutation_p.Q172L|EYS_ENST00000342421.5_Missense_Mutation_p.Q172L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	172	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.Q172L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGGCAGAACTGCTGTTTCAC	0.453000													12	38					0	0	0.002450	0	0
SLC27A4	10999	broad.mit.edu	37	9	131115780	131115780	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:131115780G>T	ENST00000300456.3	+	9	1401	c.1284G>T	c.(1282-1284)ctG>ctT	p.L428L	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	428					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	p.L428L(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						CCATGGAGCTGATCCGGGGGC	0.647000													15	56					1.62849e-17	4.98575e-17	0.004007	1	0
CDKL3	51265	broad.mit.edu	37	5	133702193	133702193	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:133702193C>T	ENST00000521118.1	-	2	136	c.22G>A	c.(22-24)Gga>Aga	p.G8R	CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000523832.1_Missense_Mutation_p.G8R|CDKL3_ENST00000523054.1_Intron|CDKL3_ENST00000265334.4_Missense_Mutation_p.G8R|CDKL3_ENST00000435211.1_Missense_Mutation_p.G8R			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	8	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	p.G8R(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCACTTTTCCAAGGGTTTCA	0.328000													4	30					0	0	0.000602	0	0
FSCN3	29999	broad.mit.edu	37	7	127235911	127235911	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:127235911G>T	ENST00000265825.5	+	2	914	c.695G>T	c.(694-696)gGa>gTa	p.G232V	FSCN3_ENST00000420086.2_Missense_Mutation_p.G98V	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	232						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.G232V(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GATGGAGAAGGAGGCATGTTA	0.567000													40	54					9.62906e-15	2.78347e-14	0.001287	1	0
COL7A1	1294	broad.mit.edu	37	3	48629362	48629362	+	Silent	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:48629362A>T	ENST00000328333.8	-	10	1433	c.1326T>A	c.(1324-1326)cgT>cgA	p.R442R	COL7A1_ENST00000454817.1_Silent_p.R442R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	442	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.R442R(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACCGGTAGCCACGGGCCTCAG	0.632000													41	47					0	0	0.002222	0	0
LMAN2L	81562	broad.mit.edu	37	2	97405754	97405754	+	Silent	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:97405754A>T	ENST00000264963.4	-	1	46	c.24T>A	c.(22-24)ctT>ctA	p.L8L	LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000377079.4_Silent_p.L8L	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	8					ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	p.L8L(1)		NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GCCACGACCCAAGGGGTCCCA	0.627000													8	51					0	0	0.000443	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559271	1559271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:1559271G>T	ENST00000381605.4	-	2	210	c.146C>A	c.(145-147)tCg>tAg	p.S49*	SIRPB1_ENST00000262929.5_Nonsense_Mutation_p.S48*|RP4-576H24.4_ENST00000564763.1_Nonsense_Mutation_p.S49*|SIRPB1_ENST00000381603.3_Nonsense_Mutation_p.S49*	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	49	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.S49*(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CAGAGTGGCCGACTCTCCAGC	0.532000													41	14					2.6416e-12	7.29669e-12	0.001287	1	0
SPTBN4	57731	broad.mit.edu	37	19	41025943	41025943	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:41025943G>A	ENST00000352632.3	+	16	3625	c.3539G>A	c.(3538-3540)gGc>gAc	p.G1180D	SPTBN4_ENST00000598249.1_Missense_Mutation_p.G1180D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G1180D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G1180D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.G1180D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1180					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.G1180D(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCGAACTTGGCTGGCATAAA	0.697000													10	5					0	0	0.002450	0	0
PSME4	23198	broad.mit.edu	37	2	54114395	54114395	+	Splice_Site	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:54114395C>A	ENST00000404125.1	-	40	4785		c.e40+1		PSME4_ENST00000421748.2_Splice_Site|PSME4_ENST00000476586.1_Splice_Site	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TATCCACTCACTGGTTTTCAA	0.338000													20	66					7.45023e-12	2.0353e-11	0.001523	1	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:241262011G>T	ENST00000366565.1	-	3	511	c.130C>A	c.(130-132)Cgt>Agt	p.R44S	RGS7_ENST00000401882.1_Missense_Mutation_p.R44S|RGS7_ENST00000407727.1_Missense_Mutation_p.R44S|RGS7_ENST00000366562.4_Missense_Mutation_p.R44S|RGS7_ENST00000331110.7_Missense_Mutation_p.R18S|RGS7_ENST00000366563.1_Missense_Mutation_p.R44S|RGS7_ENST00000366564.1_Missense_Mutation_p.R44S|RGS7_ENST00000348120.2_Missense_Mutation_p.R44S|RGS7_ENST00000446183.2_5'UTR	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000													22	27					5.45024e-15	1.57917e-14	0.003330	1	0
PAPPA2	60676	broad.mit.edu	37	1	176564612	176564612	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:176564612G>T	ENST00000367662.3	+	3	3036	c.1872G>T	c.(1870-1872)agG>agT	p.R624S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R624S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	624	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R624S(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAACCGCAGGGATGGGCTCT	0.597000													12	23					4.93089e-13	1.39298e-12	0.002450	1	0
IL4R	3566	broad.mit.edu	37	16	27374557	27374557	+	Silent	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:27374557A>G	ENST00000395762.2	+	11	2143	c.1884A>G	c.(1882-1884)gaA>gaG	p.E628E	IL4R_ENST00000380922.3_Silent_p.E613E|IL4R_ENST00000170630.2_Silent_p.E628E|IL4R_ENST00000543915.2_Silent_p.E628E	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	628	Required for IL4-induced gene expression.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.E628E(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCAGTGGGGAAGAGGGGTATA	0.602000													10	21					0	0	0.000673	0	0
MYH11	4629	broad.mit.edu	37	16	15811172	15811172	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:15811172G>T	ENST00000338282.6	-	38	5435	c.5329C>A	c.(5329-5331)Cgc>Agc	p.R1777S	MYH11_ENST00000396324.3_Missense_Mutation_p.R1784S|MYH11_ENST00000300036.5_Missense_Mutation_p.R1777S|MYH11_ENST00000576790.1_Missense_Mutation_p.R1777S|MYH11_ENST00000452625.2_Missense_Mutation_p.R1784S|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1777					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1777S(1)|p.R1784S(1)|p.R1777C(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCGTGCTGCGCTCTGTGGCC	0.647000			T	CBFB	AML								24	38					1.55469e-16	4.6905e-16	0.003330	1	0
IGF1	3479	broad.mit.edu	37	12	102796285	102796285	+	Nonstop_Mutation	SNP	C	C	A	rs115707403	byFrequency	TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:102796285C>A	ENST00000337514.6	-	4	725	c.462G>T	c.(460-462)taG>taT	p.*154Y	IGF1_ENST00000392904.1_3'UTR|IGF1_ENST00000456098.1_3'UTR|IGF1_ENST00000424202.2_Nonstop_Mutation_p.*138Y|IGF1_ENST00000481539.1_5'UTR	NM_000618.3	NP_000609.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	0					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	p.*154Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GAGGGTCTTCCTACATCCTGT	0.418000													113	136					1.21591e-56	4.49816e-56	0.003610	1	0
NUP155	9631	broad.mit.edu	37	5	37292071	37292071	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:37292071C>T	ENST00000231498.3	-	35	4310	c.4107G>A	c.(4105-4107)tcG>tcA	p.S1369S	NUP155_ENST00000513532.1_Silent_p.S1305S|NUP155_ENST00000381843.2_Silent_p.S1310S|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1369					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	p.S1369S(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCTACTGACGAGCTCATAG	0.368000													34	111					0	0	0.003271	0	0
BEST3	144453	broad.mit.edu	37	12	70049062	70049062	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:70049062G>A	ENST00000330891.5	-	10	1858	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G	BEST3_ENST00000553096.1_Silent_p.G438G|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Silent_p.G331G	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	544						chloride channel complex|plasma membrane	chloride channel activity	p.G544G(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATCCCATGGGGCCCTGCTGCT	0.562000													70	76					0	0	0.003610	0	0
PDCD2	5134	broad.mit.edu	37	6	170886768	170886768	+	Missense_Mutation	SNP	C	C	G	rs140493653	by1000genomes	TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:170886768C>G	ENST00000541970.1	-	6	992	c.914G>C	c.(913-915)aGa>aCa	p.R305T	PDCD2_ENST00000392090.2_Missense_Mutation_p.R272T	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	305					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.R305T(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		CTTGCCCAGTCTGTCAGCCTT	0.527000													12	47					0	0	0.001855	0	0
TARS2	80222	broad.mit.edu	37	1	150471511	150471511	+	Splice_Site	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:150471511G>T	ENST00000369064.3	+	12	1573		c.e12+1		TARS2_ENST00000438568.2_Splice_Site|TARS2_ENST00000369054.2_Splice_Site|TARS2_ENST00000606933.1_Splice_Site|TARS2_ENST00000463555.1_Splice_Site	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)						threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.?(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGCCGAACAGGTGAGTAGGAG	0.557000													46	313					1.61004e-24	5.37978e-24	0.003610	1	0
NPHP4	261734	broad.mit.edu	37	1	6008261	6008261	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:6008261C>A	ENST00000378156.4	-	8	1126	c.861G>T	c.(859-861)ctG>ctT	p.L287L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	287					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.L287L(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCCACACGCAGGCGCCGCT	0.632000													9	9					0.00448238	0.0093798	0.004482	1	0
DNAH2	146754	broad.mit.edu	37	17	7681483	7681483	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:7681483C>A	ENST00000572933.1	+	34	6796	c.5336C>A	c.(5335-5337)aCc>aAc	p.T1779N	DNAH2_ENST00000389173.2_Missense_Mutation_p.T1779N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1779	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T1779N(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCGTCATCACCCCCCTGACG	0.547000													9	42					1.12685e-05	2.55132e-05	0.004482	1	0
MRPL42	28977	broad.mit.edu	37	12	93870766	93870766	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:93870766A>T	ENST00000549982.1	+	3	268	c.107A>T	c.(106-108)tAt>tTt	p.Y36F	MRPL42_ENST00000548545.1_Missense_Mutation_p.Y36F|MRPL42_ENST00000547098.1_Missense_Mutation_p.Y36F|MRPL42_ENST00000552217.1_Missense_Mutation_p.Y36F|MRPL42_ENST00000393128.4_Missense_Mutation_p.Y36F|MRPL42_ENST00000361630.2_Missense_Mutation_p.Y36F	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	36					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	p.Y36F(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						AAATCTACGTATTCTCCTCTA	0.274000													59	135					0	0	0.003610	0	0
RUNX1T1	862	broad.mit.edu	37	8	93023240	93023240	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:93023240G>C	ENST00000523629.1	-	5	1002	c.548C>G	c.(547-549)cCa>cGa	p.P183R	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P146R|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P194R|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P156R|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P146R|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P183R|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.P146R|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P146R|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P156R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	183	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P183R(1)|p.P146R(1)|p.P194R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTTCAAAAATGGGATGACAAA	0.363000													26	84					0	0	0.001061	0	0
WDFY3	23001	broad.mit.edu	37	4	85748105	85748105	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:85748105T>C	ENST00000322366.6	-	10	1393	c.986A>G	c.(985-987)aAa>aGa	p.K329R	WDFY3_ENST00000295888.4_Missense_Mutation_p.K329R			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	329						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.K329R(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAGGCATCTTTGGATTCTGC	0.353000													16	76					0	0	0.001523	0	0
SH3GL3	6457	broad.mit.edu	37	15	84286886	84286886	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:84286886G>A	ENST00000324537.5	+	12	1407	c.915G>A	c.(913-915)gaG>gaA	p.E305E	SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000427482.2_Silent_p.E297E|SH3GL3_ENST00000535412.1_3'UTR|SH3GL3_ENST00000434347.1_Silent_p.E305E			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	297	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.E305E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ATGACTTTGAGCCAGAAAACC	0.398000													30	20					0	0	0.003755	0	0
CA4	762	broad.mit.edu	37	17	58236701	58236701	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:58236701G>T	ENST00000300900.4	+	8	954	c.855G>T	c.(853-855)ggG>ggT	p.G285G		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	285					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	p.G285G(1)		kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TAAAGTCCGGGGCCCCGGGTC	0.652000													6	4					3.59834e-05	8.03004e-05	0.001168	1	0
RIMS2	9699	broad.mit.edu	37	8	105260983	105260983	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:105260983G>A	ENST00000507740.1	+	19	3209	c.2973G>A	c.(2971-2973)ctG>ctA	p.L991L	RIMS2_ENST00000406091.3_Silent_p.L1177L|RIMS2_ENST00000436393.2_Silent_p.L1195L|RIMS2_ENST00000262231.10_Silent_p.L1016L|RIMS2_ENST00000339750.2_Silent_p.L113L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1239					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.L991L(2)|p.L1177L(1)|p.L1195L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTGATTTCCTGGATGGCCTTG	0.448000										HNSCC(12;0.0054)			73	45					0	0	0.003610	0	0
URB2	9816	broad.mit.edu	37	1	229772860	229772860	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:229772860G>C	ENST00000258243.2	+	4	2636	c.2500G>C	c.(2500-2502)Gtc>Ctc	p.V834L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	834						nucleolus		p.V834L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTCAGGTCTTGTCAGTCAGCA	0.488000													39	110					0	0	0.001485	0	0
UTRN	7402	broad.mit.edu	37	6	144838074	144838074	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:144838074A>G	ENST00000367545.3	+	38	5531	c.5531A>G	c.(5530-5532)aAc>aGc	p.N1844S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1844					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.N1844S(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACTAGATACAACAAAATTAAG	0.323000													46	32					0	0	0.003610	0	0
DHX15	1665	broad.mit.edu	37	4	24585975	24585975	+	Silent	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:24585975G>C	ENST00000336812.4	-	1	198	c.42C>G	c.(40-42)ccC>ccG	p.P14P		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	14					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	p.P14P(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TCTTGCCAGAGGGGTAATCCT	0.652000													3	10					0	0	0.000248	0	0
KAT6B	23522	broad.mit.edu	37	10	76784718	76784718	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:76784718G>T	ENST00000287239.4	+	17	3864	c.3375G>T	c.(3373-3375)agG>agT	p.R1125S	KAT6B_ENST00000372711.1_Missense_Mutation_p.R942S|KAT6B_ENST00000372714.1_Missense_Mutation_p.R833S|KAT6B_ENST00000372725.1_Missense_Mutation_p.R833S|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372724.1_Missense_Mutation_p.R833S|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1125					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.R1125S(1)									AATTTCAGAGGCCTTTTGTAC	0.408000													6	26					0.00198382	0.004208	0.001984	1	0
OR5W2	390148	broad.mit.edu	37	11	55681482	55681482	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:55681482G>T	ENST00000344514.1	-	1	576	c.577C>A	c.(577-579)Cag>Aag	p.Q193K		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q193K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCATTGACCTGTGTATCTGAG	0.383000													29	39					8.58068e-18	2.6466e-17	0.001271	1	0
NLN	57486	broad.mit.edu	37	5	65054393	65054393	+	Splice_Site	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:65054393G>A	ENST00000380985.5	+	2	219		c.e2-1		NLN_ENST00000502464.1_Intron	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)						proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	p.?(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATTCTTTTTAGAGTTGGTGGT	0.338000													30	34					0	0	0.002836	0	0
L1CAM	3897	broad.mit.edu	37	X	153133300	153133300	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:153133300G>T	ENST00000370060.1	-	16	2083	c.1894C>A	c.(1894-1896)Cgc>Agc	p.R632S	L1CAM_ENST00000370057.3_Missense_Mutation_p.R632S|L1CAM_ENST00000543994.1_Missense_Mutation_p.R634S|L1CAM_ENST00000538883.1_Missense_Mutation_p.R634S|L1CAM_ENST00000370055.1_Missense_Mutation_p.R627S|L1CAM_ENST00000361981.3_Missense_Mutation_p.R627S|L1CAM_ENST00000361699.4_Missense_Mutation_p.R632S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	632	Fibronectin type-III 1.		R -> P (in MASA).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R632S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACACGCGCACCTGGCTC	0.667000													40	23					3.05275e-18	9.51019e-18	0.003214	1	0
RTN1	6252	broad.mit.edu	37	14	60212999	60212999	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr14:60212999G>A	ENST00000267484.5	-	2	777	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	148					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.P148S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGTAAGGAGGGGCCGGGTGTA	0.488000													23	13					0	0	0.003954	0	0
IL37	27178	broad.mit.edu	37	2	113671411	113671411	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:113671411C>A	ENST00000263326.3	+	2	167	c.125C>A	c.(124-126)aCc>aAc	p.T42N	IL37_ENST00000349806.3_Intron|IL37_ENST00000353225.3_Missense_Mutation_p.T42N|IL37_ENST00000352179.3_Intron	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	42			T -> A (in dbSNP:rs3811047).		immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	p.T42N(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AGCCTCCCCACCATGAATTTT	0.577000													98	31					2.54621e-43	9.30864e-43	0.003610	1	0
MCAT	27349	broad.mit.edu	37	22	43529315	43529315	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr22:43529315C>T	ENST00000290429.5	-	4	952	c.907G>A	c.(907-909)Gcg>Acg	p.A303T	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	303			A -> G (in dbSNP:rs13815).		fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding	p.A303T(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TATCTATGCGCGTGGACGTTG	0.577000													22	49					0	0	0.001523	0	0
SGIP1	84251	broad.mit.edu	37	1	67205156	67205156	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:67205156C>G	ENST00000371037.4	+	22	2247	c.2170C>G	c.(2170-2172)Cag>Gag	p.Q724E	SGIP1_ENST00000371035.3_Missense_Mutation_p.Q514E|SGIP1_ENST00000371036.3_Missense_Mutation_p.Q526E|SGIP1_ENST00000435165.2_Missense_Mutation_p.Q229E|SGIP1_ENST00000371039.1_Missense_Mutation_p.Q527E|SGIP1_ENST00000237247.6_Missense_Mutation_p.Q755E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	724					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.Q527E(1)|p.Q724E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAACAATGTGCAGTTCCTGGT	0.532000													23	38					0	0	0.002299	0	0
TUBB8	347688	broad.mit.edu	37	10	94014	94014	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:94014G>T	ENST00000447903.2	-	4	417	c.102C>A	c.(100-102)taC>taA	p.Y34*	TUBB8_ENST00000332708.5_Missense_Mutation_p.T70K|TUBB8_ENST00000309812.4_Nonsense_Mutation_p.Y106*|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	106					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.Y106*(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CGCCTTCGGTGTAGTGTCCCT	0.597000													6	45					0.00448238	0.0093798	0.004482	1	0
TTN	7273	broad.mit.edu	37	2	179457751	179457751	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:179457751G>C	ENST00000589042.1	-	300	59319	c.59095C>G	c.(59095-59097)Cta>Gta	p.L19699V	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L18058V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L10634V|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L10826V|TTN_ENST00000359218.5_Missense_Mutation_p.L10759V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L17131V|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18058	Fibronectin type-III 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L10759V(1)|p.L10826V(1)|p.L17129V(1)|p.L17131V(1)|p.L10634V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCAAGTTAGATCGACTGAA	0.393000													27	128					0	0	0.004656	0	0
ASPM	259266	broad.mit.edu	37	1	197102652	197102652	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:197102652C>T	ENST00000367409.4	-	6	2503	c.2247G>A	c.(2245-2247)gaG>gaA	p.E749E	ASPM_ENST00000367408.1_5'UTR|ASPM_ENST00000294732.7_Silent_p.E749E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	749					mitosis	cytoplasm|nucleus	calmodulin binding	p.E749E(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GAGACATTTCCTCTTTTGTAG	0.368000													15	30					0	0	0.004990	0	0
CNTN2	6900	broad.mit.edu	37	1	205039099	205039099	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:205039099T>A	ENST00000331830.4	+	18	2625	c.2341T>A	c.(2341-2343)Tac>Aac	p.Y781N		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	781	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.Y781N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGTCCGGCCCTACACGCCCTT	0.657000													22	28					0	0	0.002299	0	0
WNT7A	7476	broad.mit.edu	37	3	13916469	13916469	+	Silent	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:13916469G>C	ENST00000285018.4	-	2	577	c.273C>G	c.(271-273)acC>acG	p.T91T	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	91					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	p.T91T(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCCGAAGACGGTGCGCTCTC	0.577000													3	19					0	0	0.000248	0	0
TRPM3	80036	broad.mit.edu	37	9	73218314	73218314	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:73218314G>C	ENST00000377110.2	-	19	2947	c.2704C>G	c.(2704-2706)Cag>Gag	p.Q902E	TRPM3_ENST00000396292.4_Missense_Mutation_p.Q774E|TRPM3_ENST00000377105.1_Missense_Mutation_p.Q761E|TRPM3_ENST00000396280.5_Missense_Mutation_p.Q751E|TRPM3_ENST00000357533.2_Missense_Mutation_p.Q906E|TRPM3_ENST00000396285.1_Missense_Mutation_p.Q749E|TRPM3_ENST00000377111.2_Missense_Mutation_p.Q902E|TRPM3_ENST00000408909.2_Missense_Mutation_p.Q761E|TRPM3_ENST00000358082.3_Missense_Mutation_p.Q764E|TRPM3_ENST00000423814.3_Missense_Mutation_p.Q929E|TRPM3_ENST00000377106.1_Missense_Mutation_p.Q774E|TRPM3_ENST00000360823.2_Missense_Mutation_p.Q764E	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	927						integral to membrane	calcium channel activity	p.Q906E(1)|p.Q774E(1)|p.Q902E(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATCCATTCCTGGGTGGACGGC	0.433000													49	32					0	0	0.003610	0	0
TEX14	56155	broad.mit.edu	37	17	56688569	56688569	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:56688569G>T	ENST00000389934.3	-	10	1254	c.1137C>A	c.(1135-1137)atC>atA	p.I379I	TEX14_ENST00000240361.8_Silent_p.I385I|TEX14_ENST00000349033.5_Silent_p.I379I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	385	Protein kinase.					cytoplasm	ATP binding|protein kinase activity	p.I379I(2)|p.I385I(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACCTGGGGAGATGATATGGA	0.527000													49	97					8.00217e-19	2.53097e-18	0.003610	1	0
FAM21B	55747	broad.mit.edu	37	10	47919965	47919965	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:47919965G>T	ENST00000358474.5	+	16	1395	c.1395G>T	c.(1393-1395)gcG>gcT	p.A465A		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	465					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex		p.A465A(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CTCAAAGTGCGAGTAAGTTAA	0.378000													33	5					6.00712e-18	1.86671e-17	0.002445	1	0
TMTC3	160418	broad.mit.edu	37	12	88570021	88570021	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:88570021G>T	ENST00000266712.6	+	10	1577	c.1357G>T	c.(1357-1359)Ggt>Tgt	p.G453C		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	453						integral to membrane	binding	p.G453C(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GAATAATGTGGGTCATGCTCT	0.313000													16	31					2.35188e-11	6.27337e-11	0.006122	1	0
ITGA10	8515	broad.mit.edu	37	1	145533110	145533110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:145533110G>A	ENST00000369304.3	+	11	1380	c.1205G>A	c.(1204-1206)tGg>tAg	p.W402*	ITGA10_ENST00000539363.1_Nonsense_Mutation_p.W259*|ITGA10_ENST00000538811.1_Nonsense_Mutation_p.W271*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	402					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.W402*(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGTGCTATGGCTTGAAGGA	0.582000													7	163					0	0	0.004482	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170068	20170068	+	RNA	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:20170068T>A	ENST00000338912.5	-	0	203																		p.G68D(1)									GGCACACCAATCCCATCCACT	0.557000													53	89					0	0	0.003610	0	0
TIAM1	7074	broad.mit.edu	37	21	32499417	32499417	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr21:32499417C>T	ENST00000286827.3	-	27	4570	c.4099G>A	c.(4099-4101)Ggg>Agg	p.G1367R	TIAM1_ENST00000541036.1_Missense_Mutation_p.G1307R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1367	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.G1367R(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCGGCCTCCCTTCAGACTCG	0.468000													52	64					0	0	0.003610	0	0
ALG10B	144245	broad.mit.edu	37	12	38712204	38712204	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:38712204G>T	ENST00000308742.4	+	2	629	c.313G>T	c.(313-315)Gtt>Ttt	p.V105F	ALG10B_ENST00000551464.1_Missense_Mutation_p.V105F	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	105					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.V105F(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCTCTTCAGTGTTGGCAACTT	0.383000													89	124					2.67636e-39	9.69886e-39	0.003610	1	0
F13B	2165	broad.mit.edu	37	1	197029500	197029500	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:197029500G>C	ENST00000367412.1	-	5	844	c.801C>G	c.(799-801)tgC>tgG	p.C267W		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	267	Sushi 4.				blood coagulation	extracellular region		p.C267W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATTTACCTTCGCATACAGGAG	0.318000													53	63					0	0	0.003610	0	0
MMRN1	22915	broad.mit.edu	37	4	90816474	90816474	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:90816474C>A	ENST00000394980.1	+	2	671	c.352C>A	c.(352-354)Cca>Aca	p.P118T	MMRN1_ENST00000264790.2_Missense_Mutation_p.P118T|MMRN1_ENST00000394981.1_Missense_Mutation_p.P84T			Q13201	MMRN1_HUMAN	multimerin 1	118					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.P118T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCTTACCCTCCCAACCAACGC	0.448000													17	64					3.32936e-07	7.9128e-07	0.006122	1	0
LDHB	3945	broad.mit.edu	37	12	21788499	21788499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:21788499G>A	ENST00000396076.1	-	8	1314	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	LDHB_ENST00000350669.1_Nonsense_Mutation_p.Q328*	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	328					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	p.Q328*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	AGGTCCTTCTGGATGTCCCAC	0.428000													368	103					0	0	0.003610	0	0
ARMC3	219681	broad.mit.edu	37	10	23235080	23235080	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:23235080C>A	ENST00000298032.5	+	3	140	c.56C>A	c.(55-57)cCa>cAa	p.P19Q	ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.P19Q|ARMC3_ENST00000409049.3_Missense_Mutation_p.P19Q	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	19							binding	p.P19Q(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAGTTTGACCCATTAATGATT	0.303000													76	71					3.12118e-38	1.1278e-37	0.003610	1	0
PLEC	5339	broad.mit.edu	37	8	144991022	144991022	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:144991022C>T	ENST00000322810.4	-	32	13547	c.13378G>A	c.(13378-13380)Gac>Aac	p.D4460N	PLEC_ENST00000527096.1_Missense_Mutation_p.D4346N|PLEC_ENST00000354958.2_Missense_Mutation_p.D4301N|PLEC_ENST00000356346.3_Missense_Mutation_p.D4309N|PLEC_ENST00000357649.2_Missense_Mutation_p.D4327N|PLEC_ENST00000345136.3_Missense_Mutation_p.D4323N|PLEC_ENST00000398774.2_Missense_Mutation_p.D4291N|PLEC_ENST00000436759.2_Missense_Mutation_p.D4350N|PLEC_ENST00000354589.3_Missense_Mutation_p.D4323N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4460	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.D4350N(1)|p.D4460N(1)|p.D4323N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGCTGGGGTCGATGATGCCC	0.647000													10	46					0	0	0.000443	0	0
PAX1	5075	broad.mit.edu	37	20	21695407	21695407	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:21695407C>A	ENST00000398485.2	+	5	1625	c.1571C>A	c.(1570-1572)tCt>tAt	p.S524Y	PAX1_ENST00000444366.2_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	524					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.S430Y(1)|p.S524Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CTTTATTGGTCTGGGTTTTTA	0.612000													7	22					5.18039e-06	1.18586e-05	0.003080	1	0
ADCY5	111	broad.mit.edu	37	3	123166468	123166468	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:123166468C>G	ENST00000462833.1	-	1	2137	c.925G>C	c.(925-927)Gtg>Ctg	p.V309L		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	309					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.V309L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ACGGCCAGCACCACGGCGATG	0.657000													6	4					0	0	0.001168	0	0
LIM2	3982	broad.mit.edu	37	19	51885706	51885706	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:51885706C>A	ENST00000221973.3	-	3	459	c.417G>T	c.(415-417)cgG>cgT	p.R139R	LIM2_ENST00000596399.1_Silent_p.R97R	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	97					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens	p.R139R(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CAGAGAAGGGCCGGGAGATGC	0.577000													29	19					1.74807e-11	4.68287e-11	0.002096	1	0
USP31	57478	broad.mit.edu	37	16	23080432	23080432	+	Silent	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:23080432T>A	ENST00000219689.7	-	16	2993	c.2994A>T	c.(2992-2994)gtA>gtT	p.V998V	USP31_ENST00000567975.1_Silent_p.V291V	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	998	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.V998V(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GAGAGCTGTCTACGGAGTCGC	0.532000													40	57					0	0	0.001287	0	0
CCDC41	51134	broad.mit.edu	37	12	94761621	94761621	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:94761621C>A	ENST00000397809.5	-	11	1841	c.1292G>T	c.(1291-1293)cGg>cTg	p.R431L	CCDC41_ENST00000339839.5_Missense_Mutation_p.R431L|CCDC41_ENST00000397807.2_Missense_Mutation_p.R398L	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	423								p.R431L(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTGTGAAGCCCGCAATTTCTC	0.378000													7	242					0.000442599	0.000965177	0.000443	1	0
LPHN2	23266	broad.mit.edu	37	1	82409162	82409162	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:82409162G>A	ENST00000370728.1	+	8	1552	c.907G>A	c.(907-909)Gag>Aag	p.E303K	LPHN2_ENST00000370727.1_Missense_Mutation_p.E303K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.E303K|LPHN2_ENST00000370730.1_Missense_Mutation_p.E303K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E303K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E303K|LPHN2_ENST00000370721.1_Missense_Mutation_p.E307K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E303K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E303K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E303K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E303K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E303K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E303K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E303K			O95490	LPHN2_HUMAN	latrophilin 2	303	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.E303K(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGCAACGTGGGAGACTGTATA	0.408000													35	28					0	0	0.003271	0	0
BPIFB4	149954	broad.mit.edu	37	20	31672738	31672738	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:31672738C>A	ENST00000375483.3	+	4	718	c.718C>A	c.(718-720)Cgg>Agg	p.R240R		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	240						cytoplasm|extracellular region	lipid binding	p.R201R(1)									GGTGTCCGTGCGGCTCCTGCC	0.672000													7	14					2.17888e-05	4.88871e-05	0.000443	1	0
PLXDC1	57125	broad.mit.edu	37	17	37296055	37296055	+	Translation_Start_Site	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:37296055G>T	ENST00000539608.1	-	0	339				PLXDC1_ENST00000394316.2_Missense_Mutation_p.A36D|PLXDC1_ENST00000444911.2_Intron|PLXDC1_ENST00000315392.4_Missense_Mutation_p.A36D			Q8IUK5	PXDC1_HUMAN	plexin domain containing 1						angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		p.A36D(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCCTTTGGCAGCCCATCCAGA	0.652000													16	30					4.63292e-17	1.408e-16	0.001216	1	0
UACA	55075	broad.mit.edu	37	15	70961405	70961405	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:70961405C>G	ENST00000322954.6	-	16	1803	c.1618G>C	c.(1618-1620)Gag>Cag	p.E540Q	UACA_ENST00000539319.1_Missense_Mutation_p.E431Q|UACA_ENST00000560441.1_Missense_Mutation_p.E525Q|UACA_ENST00000379983.2_Missense_Mutation_p.E527Q	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	540						cytoskeleton|extracellular region		p.E540Q(1)|p.E527Q(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTCAGTTCCTCGGTTAGTCTG	0.383000													57	95					0	0	0.003610	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218542	208218542	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:208218542C>T	ENST00000367033.3	-	19	4266	c.3509G>A	c.(3508-3510)tGc>tAc	p.C1170Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1170	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane		p.C1170Y(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCAGGAGGGCAGAGGTTTTT	0.498000													28	92					0	0	0.002836	0	0
MYT1L	23040	broad.mit.edu	37	2	1983509	1983509	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:1983509G>T	ENST00000399161.2	-	6	788	c.41C>A	c.(40-42)tCc>tAc	p.S14Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.S14Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	14					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S14N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AACCCCTTTGGACCGCGTGCG	0.597000													6	11					0.00116845	0.00249549	0.001168	1	0
STIM2	57620	broad.mit.edu	37	4	27010602	27010602	+	Silent	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:27010602C>G	ENST00000382009.3	+	11	2019	c.1752C>G	c.(1750-1752)ccC>ccG	p.P584P	STIM2_ENST00000467087.1_Silent_p.P489P|STIM2_ENST00000465503.1_Silent_p.P497P|STIM2_ENST00000237364.5_Silent_p.P576P|STIM2_ENST00000412829.2_Silent_p.P576P|STIM2_ENST00000467011.1_Silent_p.P489P	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	489					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	p.P576P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AAGACACACCCCCAATAGTGT	0.418000													3	112					0	0	0.004672	0	0
TERT	7015	broad.mit.edu	37	5	1264660	1264660	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:1264660C>A	ENST00000310581.5	-	11	2759	c.2702G>T	c.(2701-2703)cGg>cTg	p.R901L	TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	901	Reverse transcriptase.		R -> W (in a family with autosomal recessive DKC; severe phenotype overlapping with Hoyeraal-Hreidarsson syndrome; very short telomeres and greatly reduced telomerase activity).		anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.R889L(1)|p.R901L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACTGTCTTCCGCAAGTTCAC	0.637000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	131					0.00198382	0.004208	0.001984	1	0
SLC13A2	9058	broad.mit.edu	37	17	26817355	26817355	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:26817355G>T	ENST00000444914.3	+	3	682	c.262G>T	c.(262-264)Gag>Tag	p.E88*	SLC13A2_ENST00000314669.5_Intron|SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000545060.1_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.E88*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ATCCAGTTTCGAGAGCCCAGG	0.522000													25	44					7.92952e-12	2.16149e-11	0.003954	1	0
HDC	3067	broad.mit.edu	37	15	50544822	50544822	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:50544822A>T	ENST00000267845.3	-	8	1339	c.937T>A	c.(937-939)Tgt>Agt	p.C313S	HDC_ENST00000543581.1_Missense_Mutation_p.C313S	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	313					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.C313S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AACCCAGTACAGTCAAAATGC	0.552000													22	17					0	0	0.002780	0	0
ERBB4	2066	broad.mit.edu	37	2	212543799	212543799	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:212543799C>G	ENST00000342788.4	-	13	1910	c.1600G>C	c.(1600-1602)Gag>Cag	p.E534Q	ERBB4_ENST00000436443.1_Missense_Mutation_p.E534Q|ERBB4_ENST00000402597.1_Missense_Mutation_p.E534Q	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	534	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.E534Q(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTACAAGACTCTATGCAGATC	0.453000										TSP Lung(8;0.080)			14	23					0	0	0.001855	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483806	102483806	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr14:102483806C>T	ENST00000360184.4	+	40	8306	c.8142C>T	c.(8140-8142)ccC>ccT	p.P2714P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2714	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.P2714P(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTTGTAATCCCCCCACAGACC	0.527000													31	60					0	0	0.001271	0	0
LRIT2	340745	broad.mit.edu	37	10	85984284	85984284	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:85984284C>A	ENST00000372113.4	-	2	702	c.697G>T	c.(697-699)Ggc>Tgc	p.G233C	LRIT2_ENST00000538192.1_Missense_Mutation_p.G233C	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	233	LRRCT.					integral to membrane		p.G233C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GACAGAGGGCCCTGACATATC	0.532000													22	64					2.21704e-12	6.13758e-12	0.002780	1	0
KIR3DX1	90011	broad.mit.edu	37	19	55048360	55048360	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:55048360C>T	ENST00000335056.3	+	5	965	c.927C>T	c.(925-927)acC>acT	p.T309T	KIR3DX1_ENST00000482404.1_3'UTR														p.T309T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CCCCAGTGACCCGCTGCAACT	0.602000													26	12					0	0	0.003954	0	0
PLCG2	5336	broad.mit.edu	37	16	81942093	81942093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:81942093G>T	ENST00000359376.3	+	17	1844	c.1630G>T	c.(1630-1632)Gag>Tag	p.E544*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	544	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.E544K(4)|p.E544*(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GACGAGTGCCGAGAAGTTGCT	0.547000													6	29					2.0095e-06	4.6688e-06	0.001984	1	0
LYAR	55646	broad.mit.edu	37	4	4283517	4283517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:4283517C>T	ENST00000343470.4	-	4	470	c.230G>A	c.(229-231)tGg>tAg	p.W77*	LYAR_ENST00000452476.1_Nonsense_Mutation_p.W77*	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	77						nucleolus	metal ion binding|protein binding	p.W77*(1)		endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TACCTGAATCCACGCCTGCTG	0.448000													22	236					0	0	0.001882	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501701	140501701	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:140501701G>C	ENST00000194152.1	+	1	121	c.121G>C	c.(121-123)Ggc>Cgc	p.G41R		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		41	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.G41R(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAGAGAGCGGCTCCTTTGT	0.537000													23	37					0	0	0.003330	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618638	77618638	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:77618638G>A	ENST00000521891.2	+	2	2763	c.2315G>A	c.(2314-2316)tGt>tAt	p.C772Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.C772Y|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.C772Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.C772Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	772						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C772Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTGAAGTTTGTGATTATGAA	0.512000										HNSCC(33;0.089)			13	18					0	0	0.003163	0	0
ADRBK2	157	broad.mit.edu	37	22	26107113	26107113	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr22:26107113G>T	ENST00000324198.5	+	17	1666	c.1474G>T	c.(1474-1476)Gat>Tat	p.D492Y		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	492	AGC-kinase C-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.D492Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TGATGAAGAGGATACCAAAGG	0.393000													20	12					1.2644e-06	2.9598e-06	0.001523	1	0
TDG	6996	broad.mit.edu	37	12	104380778	104380778	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:104380778G>T	ENST00000392872.3	+	10	1377	c.1143G>T	c.(1141-1143)ggG>ggT	p.G381G	TDG_ENST00000266775.9_Silent_p.G377G|TDG_ENST00000542036.1_Silent_p.G177G|TDG_ENST00000536395.1_3'UTR|TDG_ENST00000544861.1_Silent_p.G238G	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	381			G -> E (in dbSNP:rs3953597).		depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	p.G381G(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TTCCTAATGGGCAGTGGATGA	0.398000								Base excision repair (BER), DNA glycosylases					33	111					9.04072e-19	2.84496e-18	0.003271	1	0
HCCAT5	283902	broad.mit.edu	37	16	73127034	73127034	+	RNA	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:73127034C>A	ENST00000569990.2	+	0	692					NR_027756.1																						AAGAACAACCCCGACAGCTGC	0.498000													22	27					3.62473e-10	9.42582e-10	0.001882	1	0
RIMBP2	23504	broad.mit.edu	37	12	130919346	130919346	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:130919346G>T	ENST00000261655.4	-	11	2298	c.2135C>A	c.(2134-2136)tCt>tAt	p.S712Y	RIMBP2_ENST00000535703.1_Missense_Mutation_p.S620Y|RIMBP2_ENST00000536002.1_Missense_Mutation_p.S620Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	712						cell junction|synapse		p.S712Y(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GAAGTCTGGAGAGTCATAGGC	0.592000													73	76					3.58576e-35	1.28447e-34	0.003610	1	0
SHANK3	85358	broad.mit.edu	37	22	51123021	51123021	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr22:51123021C>T	ENST00000414786.2	+	9	1199	c.972C>T	c.(970-972)atC>atT	p.I324I	SHANK3_ENST00000445220.2_Silent_p.I324I|SHANK3_ENST00000262795.3_Silent_p.I324I			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	324								p.I324I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|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)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGTGGCCATCATCGCAGGGA	0.587000													13	28					0	0	0.003163	0	0
LAMC3	10319	broad.mit.edu	37	9	133967011	133967011	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:133967011C>A	ENST00000361069.4	+	28	4698	c.4565C>A	c.(4564-4566)cCg>cAg	p.P1522Q	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1522	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity	p.P1522Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTGGGCTCCCCGGGGTCCTTG	0.652000													7	9					0.00307968	0.00647723	0.003080	1	0
GPATCH2	55105	broad.mit.edu	37	1	217787488	217787488	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:217787488C>A	ENST00000366935.3	-	3	940	c.830G>T	c.(829-831)aGa>aTa	p.R277I	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R277I	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	277						intracellular	nucleic acid binding	p.R277I(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		AGTACCTTGTCTTCCCTCATC	0.348000													13	42					9.31168e-06	2.12375e-05	0.001855	1	0
TRIM51	84767	broad.mit.edu	37	11	55658705	55658705	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:55658705C>T	ENST00000449290.2	+	7	1048	c.956C>T	c.(955-957)cCc>cTc	p.P319L	TRIM51_ENST00000244891.3_Missense_Mutation_p.P176L	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	319	B30.2/SPRY.					intracellular	zinc ion binding	p.P160L(1)|p.P319L(1)									CAAGATGATCCCGATATCACT	0.433000													32	125					0	0	0.002445	0	0
PDHA2	5161	broad.mit.edu	37	4	96762101	96762101	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:96762101C>A	ENST00000295266.4	+	1	863	c.800C>A	c.(799-801)gCa>gAa	p.A267E		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	267					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.A267E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACAAAATTTGCAGCTAACTAC	0.478000													19	45					9.7654e-05	0.000215986	0.000958	1	0
SYT11	23208	broad.mit.edu	37	1	155837814	155837814	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:155837814G>A	ENST00000368324.4	+	2	346	c.93G>A	c.(91-93)tcG>tcA	p.S31S	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	31						cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.S31S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TGTGTGTCTCGGTGACCGTCT	0.557000													12	182					0	0	0.001855	0	0
EPHB6	2051	broad.mit.edu	37	7	142562413	142562413	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:142562413C>G	ENST00000392957.2	+	7	1642	c.855C>G	c.(853-855)caC>caG	p.H285Q	EPHB6_ENST00000442129.1_Missense_Mutation_p.H285Q|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	285	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.H270Q(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCAGGCTGCACTGCAACGGGG	0.677000													42	80					0	0	0.001706	0	0
PKD1	5310	broad.mit.edu	37	16	2155467	2155467	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:2155467C>A	ENST00000262304.4	-	21	8080	c.7872G>T	c.(7870-7872)cgG>cgT	p.R2624R	PKD1_ENST00000423118.1_Silent_p.R2624R|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2624	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.R2624R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCCAGGGCCCGCTCGTACT	0.677000													30	51					1.08312e-15	3.19791e-15	0.001786	1	0
ZNF836	162962	broad.mit.edu	37	19	52658909	52658909	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:52658909G>T	ENST00000322146.8	-	5	2548	c.2027C>A	c.(2026-2028)aCt>aAt	p.T676N	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.T676N	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	676					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T676N(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGAACGCTGAGTATAGGCTTT	0.398000													73	43					7.45626e-27	2.53228e-26	0.003610	1	0
ABCC9	10060	broad.mit.edu	37	12	21958111	21958111	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:21958111C>A	ENST00000261201.4	-	38	4646	c.4647G>T	c.(4645-4647)aaG>aaT	p.K1549N	ABCC9_ENST00000345162.2_Missense_Mutation_p.K1513N|ABCC9_ENST00000261200.4_Intron	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1549					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.K1549N(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGATGGTCTACTTGTTGGTCA	0.423000													195	50					9.42237e-98	3.57074e-97	0.003610	1	0
KALRN	8997	broad.mit.edu	37	3	124160831	124160831	+	Nonsense_Mutation	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:124160831A>T	ENST00000360013.3	+	19	3359	c.3232A>T	c.(3232-3234)Aag>Tag	p.K1078*	KALRN_ENST00000240874.3_Nonsense_Mutation_p.K1078*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.K1069*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1078					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.K1078*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGTGTTTCTCAAGTACATCCA	0.582000													11	26					0	0	0.001368	0	0
SLC13A5	284111	broad.mit.edu	37	17	6604360	6604360	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:6604360C>A	ENST00000433363.2	-	6	1035	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	SLC13A5_ENST00000381074.4_Missense_Mutation_p.A225S|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A268S|SLC13A5_ENST00000293800.6_Missense_Mutation_p.A251S	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	268						integral to membrane	citrate transmembrane transporter activity	p.A268S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CACAGCCAGGCGAACAGCAGC	0.478000													17	11					3.32936e-07	7.9128e-07	0.006122	1	0
TAS1R3	83756	broad.mit.edu	37	1	1269215	1269215	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:1269215C>A	ENST00000339381.5	+	6	1962	c.1930C>A	c.(1930-1932)Ctc>Atc	p.L644I		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	644					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.L644I(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-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;0.146)	Aspartame(DB00168)	CCACCTCCCGCTCACGGGCTG	0.687000													4	11					1.024e-07	2.46673e-07	0.000602	1	0
SCML4	256380	broad.mit.edu	37	6	108068029	108068029	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:108068029C>A	ENST00000369022.2	-	3	386	c.177G>T	c.(175-177)caG>caT	p.Q59H	SCML4_ENST00000369020.3_Missense_Mutation_p.Q117H|SCML4_ENST00000369021.3_Missense_Mutation_p.Q88H			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q117H(1)|p.Q88H(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GCTCCGGGAGCTGCTGCACCT	0.632000													16	18					1.99824e-07	4.76738e-07	0.004990	1	0
BACH2	60468	broad.mit.edu	37	6	90661490	90661490	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:90661490C>A	ENST00000257749.4	-	7	1042	c.335G>T	c.(334-336)tGt>tTt	p.C112F	BACH2_ENST00000537989.1_Missense_Mutation_p.C112F|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.C112F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	112						nucleus	protein dimerization activity|sequence-specific DNA binding	p.C112F(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GAACTCAGCACAGCGGATGAC	0.567000													13	31					0.000151284	0.000333416	0.001855	1	0
COL9A1	1297	broad.mit.edu	37	6	70981372	70981372	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:70981372G>T	ENST00000357250.6	-	14	1287	c.1129C>A	c.(1129-1131)Cgt>Agt	p.R377S	COL9A1_ENST00000370499.4_Missense_Mutation_p.R134S|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.R134S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	377	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.R134S(2)|p.R377S(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGTCCTACACGGCCAAGCTCT	0.403000													10	17					9.31168e-06	2.12375e-05	0.001855	1	0
CDK11B	984	broad.mit.edu	37	1	1572836	1572836	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:1572836C>G	ENST00000407249.3	-	15	1512	c.1513G>C	c.(1513-1515)Gtg>Ctg	p.V505L	CDK11B_ENST00000341832.6_Missense_Mutation_p.V458L|CDK11B_ENST00000340677.5_Missense_Mutation_p.V492L|CDK11B_ENST00000317673.7_Missense_Mutation_p.V503L			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	515	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.V505L(1)		endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TAGTTCATCACGATGTAGATC	0.622000													8	41					0	0	0.000673	0	0
PTPRN2	5799	broad.mit.edu	37	7	157931164	157931164	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:157931164C>A	ENST00000389413.3	-	7	1057	c.954G>T	c.(952-954)ccG>ccT	p.P318P	PTPRN2_ENST00000389416.4_Silent_p.P301P|PTPRN2_ENST00000389418.4_Silent_p.P318P|PTPRN2_ENST00000404321.2_Silent_p.P341P|PTPRN2_ENST00000409483.1_Silent_p.P280P	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	318						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P318P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCACCTCAGCCGGCTGCCTCT	0.617000													25	79					5.60225e-13	1.57905e-12	0.001786	1	0
DRD5	1816	broad.mit.edu	37	4	9785072	9785072	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:9785072G>A	ENST00000304374.2	+	1	1815	c.1419G>A	c.(1417-1419)ccG>ccA	p.P473P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	473					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.P473P(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTTTCACCCCGAATGGATTCC	0.488000													4	41					0	0	0.000248	0	0
FGGY	55277	broad.mit.edu	37	1	60125889	60125889	+	Splice_Site	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:60125889A>T	ENST00000371218.4	+	13	1477		c.e13-1		FGGY_ENST00000371212.1_Splice_Site|FGGY_ENST00000303721.7_Splice_Site|FGGY_ENST00000474476.1_Splice_Site|FGGY_ENST00000371210.1_Splice_Site	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing						carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	p.?(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCATGCCTGCAGGTCACCGGA	0.433000													30	69					0	0	0.002836	0	0
SLC25A14	9016	broad.mit.edu	37	X	129498605	129498605	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:129498605G>A	ENST00000543953.1	+	7	542	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	SLC25A14_ENST00000361980.5_Missense_Mutation_p.V197M|SLC25A14_ENST00000339231.3_Missense_Mutation_p.V228M|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000218197.5_Missense_Mutation_p.V200M|SLC25A14_ENST00000545805.1_Missense_Mutation_p.V200M			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	200					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding	p.V200M(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TTCGTAGGGTGTGGTTCCAAC	0.418000													54	38					0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690582	77690582	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:77690582C>A	ENST00000521891.2	+	4	3680	c.3232C>A	c.(3232-3234)Cgg>Agg	p.R1078R	ZFHX4_ENST00000050961.6_Silent_p.R1052R|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Silent_p.R1052R|ZFHX4_ENST00000518282.1_Silent_p.R1052R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1052						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1078R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAGGGCCTACGGAAGCTCCA	0.502000										HNSCC(33;0.089)			49	120					5.2118e-15	1.51361e-14	0.003610	1	0
OR10X1	128367	broad.mit.edu	37	1	158549455	158549455	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:158549455G>T	ENST00000368150.1	-	1	234	c.235C>A	c.(235-237)Ctt>Att	p.L79I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F78_L79>LI(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGTGCACTAAGGAAGAGATAC	0.502000													19	210					1.66031e-10	4.36313e-10	0.003954	1	0
NDN	4692	broad.mit.edu	37	15	23931737	23931737	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:23931737C>T	ENST00000331837.4	-	1	713	c.628G>A	c.(628-630)Gtc>Atc	p.V210I		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	210	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.V210I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		ACGTTCCAGACGGCGCTCTCT	0.632000									Prader-Willi syndrome				6	24					0	0	0.001168	0	0
SLC5A11	115584	broad.mit.edu	37	16	24919397	24919397	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:24919397C>A	ENST00000347898.3	+	13	2001	c.1379C>A	c.(1378-1380)cCg>cAg	p.P460Q	SLC5A11_ENST00000565769.1_Missense_Mutation_p.P396Q|SLC5A11_ENST00000567758.1_Missense_Mutation_p.P425Q|SLC5A11_ENST00000568579.1_Missense_Mutation_p.P390Q|SLC5A11_ENST00000424767.2_Missense_Mutation_p.P425Q|SLC5A11_ENST00000539472.1_Missense_Mutation_p.P396Q|SLC5A11_ENST00000569071.1_Missense_Mutation_p.P304Q|SLC5A11_ENST00000449109.2_Missense_Mutation_p.P304Q|SLC5A11_ENST00000545376.1_Missense_Mutation_p.P390Q	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	460					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.P460Q(1)		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)		TACCTGCAGCCGCCTGTGGCG	0.582000													29	99					1.16021e-09	2.99199e-09	0.001271	1	0
FAM227B	196951	broad.mit.edu	37	15	49903457	49903457	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:49903457T>A	ENST00000299338.6	-	3	363	c.60A>T	c.(58-60)caA>caT	p.Q20H	FAM227B_ENST00000561064.1_Missense_Mutation_p.Q20H|FAM227B_ENST00000558594.1_Missense_Mutation_p.Q20H|FAM227B_ENST00000560246.1_Missense_Mutation_p.Q20H|FAM227B_ENST00000558862.1_5'UTR	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B									p.Q20H(1)									TTGGAGGTTCTTGCATTTTCT	0.259000													31	20					0	0	0.002836	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409775	105409775	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr14:105409775G>A	ENST00000333244.5	-	7	12132	c.12013C>T	c.(12013-12015)Cct>Tct	p.P4005S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4005						nucleus		p.P4005S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCATGGAAGGGAGGCTCACG	0.627000													73	133					0	0	0.003610	0	0
DNAH17	8632	broad.mit.edu	37	17	76503452	76503452	+	Splice_Site	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:76503452C>A	ENST00000389840.5	-	29	4697		c.e29-1		DNAH17_ENST00000585328.1_Splice_Site					dynein, axonemal, heavy chain 17									p.?(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCATCAAGGCCTGGGAAGAGA	0.557000													47	78					3.50607e-19	1.11745e-18	0.003610	1	0
ZNF536	9745	broad.mit.edu	37	19	31039467	31039467	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:31039467C>A	ENST00000355537.3	+	4	3088	c.2941C>A	c.(2941-2943)Cgg>Agg	p.R981R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	981					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R981R(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTTGTCTGTGCGGCCAGATGC	0.572000													37	27					6.70999e-13	1.87849e-12	0.004289	1	0
AHNAK2	113146	broad.mit.edu	37	14	105413593	105413593	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr14:105413593G>A	ENST00000333244.5	-	7	8314	c.8195C>T	c.(8194-8196)cCc>cTc	p.P2732L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2732						nucleus		p.P2732L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGCAGCTTGGGCAGGTGCCC	0.632000													85	167					0	0	0.003610	0	0
PLCB1	23236	broad.mit.edu	37	20	8639185	8639185	+	Splice_Site	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:8639185T>C	ENST00000378641.3	+	9	1171	c.695_splice	c.e9-1	p.F232_splice	PLCB1_ENST00000338037.6_Splice_Site_p.F232_splice|PLCB1_ENST00000378637.2_Splice_Site_p.F232_splice	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	232					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.F232F(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTGTTTTTAGTGGTGCAAAAA	0.308000													41	57					0	0	0.003610	0	0
RASSF2	9770	broad.mit.edu	37	20	4768370	4768370	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:4768370G>C	ENST00000379400.3	-	10	917	c.722C>G	c.(721-723)cCg>cGg	p.P241R	RASSF2_ENST00000379376.2_Missense_Mutation_p.P241R|RASSF2_ENST00000478553.1_Intron	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	241	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.P241R(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GGCAATCAGCGGGTAATCGGT	0.542000													22	27					0	0	0.003330	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162240	90162240	+	RNA	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:90162240G>T	ENST00000564451.1	+	0	1593				TUBB8P7_ENST00000567960.1_RNA														p.E324D(1)									CCATGAGGGAGGTGGATGAAC	0.517000													15	150					4.96729e-08	1.21066e-07	0.001216	1	0
DUOX2	50506	broad.mit.edu	37	15	45404832	45404832	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:45404832C>G	ENST00000389039.6	-	4	630	c.245G>C	c.(244-246)cGc>cCc	p.R82P	DUOX2_ENST00000603300.1_Missense_Mutation_p.R82P			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	82	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.R82P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCTGAGCCGGCGCGGGTTGGG	0.687000													19	12					0	0	0.001216	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43630579	43630579	+	Silent	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:43630579T>A	ENST00000332857.6	-	1	151	c.123A>T	c.(121-123)ctA>ctT	p.L41L		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.L41L(1)									AGGGGAGTAATAGGAAGAAGA	0.507000													25	141					0	0	0.001271	0	0
PCDH1	5097	broad.mit.edu	37	5	141244219	141244219	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:141244219G>A	ENST00000287008.3	-	3	1824	c.1677C>T	c.(1675-1677)ccC>ccT	p.P559P	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Silent_p.P537P|PCDH1_ENST00000394536.3_Silent_p.P559P|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Silent_p.P547P	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	559	Cadherin 5.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	p.P559P(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCCAGTCTCGGGTGAGATGG	0.577000													8	26					0	0	0.004482	0	0
ZNF454	285676	broad.mit.edu	37	5	178392832	178392832	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:178392832C>A	ENST00000320129.3	+	5	1730	c.1427C>A	c.(1426-1428)gCc>gAc	p.A476D	ZNF454_ENST00000519564.1_Missense_Mutation_p.A476D	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A476E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TGTGAGAAAGCCTTTATCCGA	0.388000													35	46					1.06647e-15	3.16378e-15	0.003755	1	0
WBSCR17	64409	broad.mit.edu	37	7	71036284	71036284	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:71036284T>C	ENST00000333538.5	+	6	1611	c.977T>C	c.(976-978)aTa>aCa	p.I326T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	326	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I326T(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCAGCCATGATAGGCTGCTCG	0.507000													84	83					0	0	0.003610	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90199023	90199023	+	RNA	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:90199023C>A	ENST00000390276.2	+	0	365																											TCAGCAGAAACCAGGGAAAGC	0.522000													87	69					1.78293e-71	6.69541e-71	0.003610	1	0
SNCA	6622	broad.mit.edu	37	4	90756767	90756767	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:90756767C>A	ENST00000394989.2	-	2	314	c.52G>T	c.(52-54)Gct>Tct	p.A18S	SNCA_ENST00000345009.4_Missense_Mutation_p.A18S|SNCA_ENST00000502987.1_Missense_Mutation_p.A18S|SNCA_ENST00000508895.1_Missense_Mutation_p.A18S|SNCA_ENST00000394991.3_Missense_Mutation_p.A18S|SNCA_ENST00000394986.1_Missense_Mutation_p.A18S|SNCA_ENST00000505199.1_Missense_Mutation_p.A18S|SNCA_ENST00000336904.3_Missense_Mutation_p.A18S|SNCA_ENST00000420646.2_Missense_Mutation_p.A18S|SNCA_ENST00000506244.1_Missense_Mutation_p.A18S			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	18					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding	p.A18S(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TTCTCAGCAGCAGCCACAACT	0.438000													37	78					2.87052e-16	8.63936e-16	0.005524	1	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994249	45994249	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr21:45994249C>T	ENST00000400374.3	+	1	644	c.614C>T	c.(613-615)aCg>aTg	p.T205M	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	205	36 X 5 AA repeats of C-C-X(3).					keratin filament		p.T205M(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						AGCTCCTGCACGCCCTCGTGC	0.662000													17	50					0	0	0.005443	0	0
WDFY2	115825	broad.mit.edu	37	13	52293449	52293449	+	Silent	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr13:52293449A>T	ENST00000298125.5	+	5	630	c.450A>T	c.(448-450)ggA>ggT	p.G150G		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	150							metal ion binding	p.G150G(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGCGCCTGGGAGGTTATCGGA	0.517000													17	48					0	0	0.002299	0	0
POLE	5426	broad.mit.edu	37	12	133214603	133214603	+	Missense_Mutation	SNP	C	C	T	rs114173192	by1000genomes	TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:133214603C>T	ENST00000320574.5	-	41	5718	c.5675G>A	c.(5674-5676)aGc>aAc	p.S1892N	POLE_ENST00000434528.3_5'UTR|POLE_ENST00000535270.1_Missense_Mutation_p.S1865N	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1892					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.S1892N(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GCCGCACCTGCTGGTGATGTA	0.582000								DNA polymerases (catalytic subunits)					59	16					0	0	0.003610	0	0
LAD1	3898	broad.mit.edu	37	1	201356059	201356059	+	Missense_Mutation	SNP	G	G	A	rs150517332		TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:201356059G>A	ENST00000391967.2	-	3	731	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	LAD1_ENST00000367313.3_Missense_Mutation_p.R158W	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	144						basement membrane	structural molecule activity	p.R144W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CTCAGTCTCCGGCGAGGTGGG	0.617000													20	56					0	0	0.001523	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55046820	55046820	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:55046820C>A	ENST00000335056.3	+	4	403	c.365C>A	c.(364-366)cCc>cAc	p.P122H	KIR3DX1_ENST00000482404.1_3'UTR														p.P122H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTCACAAAACCCTCCATCTCA	0.547000													26	16					3.11337e-16	9.32512e-16	0.002836	1	0
STAT2	6773	broad.mit.edu	37	12	56740394	56740394	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:56740394A>T	ENST00000314128.4	-	21	1899	c.1876T>A	c.(1876-1878)Tac>Aac	p.Y626N	STAT2_ENST00000557235.1_Missense_Mutation_p.Y622N|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	626	SH2.				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.Y626N(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGCACAGAGTAGATGAGCACC	0.552000													23	51					0	0	0.002780	0	0
RP11-80F22.9	0	broad.mit.edu	37	16	34713682	34713682	+	RNA	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:34713682G>T	ENST00000569028.2	-	0	289																											AGGGGGTCTCGGCTTTTTGTT	0.502000													4	8					1.23904e-05	2.80023e-05	0.000602	1	0
KIAA1429	25962	broad.mit.edu	37	8	95501001	95501001	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:95501001C>A	ENST00000297591.5	-	24	5447	c.5372G>T	c.(5371-5373)gGc>gTc	p.G1791V	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1791					mRNA processing|RNA splicing	nucleus		p.G1791V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCCTCTTGAGCCTCCACTGCC	0.493000													56	55					9.77497e-20	3.13961e-19	0.003610	1	0
ALK	238	broad.mit.edu	37	2	29519816	29519816	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:29519816G>T	ENST00000389048.3	-	9	2661	c.1755C>A	c.(1753-1755)gcC>gcA	p.A585A	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	585	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.A585A(1)	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)	CTTCATAGGCGGCGACATGCC	0.557000			"""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				7	27					0.000157383	0.000345632	0.003080	1	0
MTMR12	54545	broad.mit.edu	37	5	32230269	32230269	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:32230269G>A	ENST00000382142.3	-	16	2029	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000264934.5_Missense_Mutation_p.S510F|MTMR12_ENST00000280285.5_Missense_Mutation_p.S566F	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	620	Myotubularin phosphatase.					cytoplasm	phosphatase activity	p.S620F(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTAGTCAGTGGACTTGCTATG	0.453000													31	231					0	0	0.002445	0	0
TRAP1	10131	broad.mit.edu	37	16	3724427	3724427	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:3724427C>A	ENST00000575671.1	-	4	1059	c.330G>T	c.(328-330)gcG>gcT	p.A110A	TRAP1_ENST00000538171.1_Silent_p.A266A|TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000246957.5_Silent_p.A319A			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	319					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	p.A319A(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CGTGAGCCTGCGCGACGTAGC	0.607000													26	17					4.72057e-08	1.15505e-07	0.003954	1	0
CACNG3	10368	broad.mit.edu	37	16	24358105	24358105	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:24358105G>T	ENST00000005284.3	+	2	1464	c.262G>T	c.(262-264)Gac>Tac	p.D88Y		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	88					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D88Y(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGAAGATGCTGACTACGAACA	0.567000													7	37					0.00307968	0.00647723	0.003080	1	0
GJC2	57165	broad.mit.edu	37	1	228346748	228346748	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:228346748G>C	ENST00000366714.2	+	2	1464	c.1289G>C	c.(1288-1290)aGc>aCc	p.S430T		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	430					cell death	connexon complex|integral to membrane		p.S430T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				AGTGCCAGCAGCAGGGACGGG	0.721000													12	14					0	0	0.001855	0	0
CR1L	1379	broad.mit.edu	37	1	207890954	207890954	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:207890954C>A	ENST00000508064.2	+	11	1620	c.1560C>A	c.(1558-1560)agC>agA	p.S520R		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	520	Sushi 8.					cytoplasm|extracellular region|membrane		p.S520R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTGGGGAGAGCACCATCCGCC	0.547000													27	115					1.88708e-17	5.76326e-17	0.001512	1	0
KCNJ12	3768	broad.mit.edu	37	17	21318834	21318834	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:21318834G>T	ENST00000583088.1	+	3	1075	c.180G>T	c.(178-180)atG>atT	p.M60I	KCNJ12_ENST00000331718.5_Missense_Mutation_p.M60I	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.M60I(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TCGCCAACATGGACGAGAAGT	0.597000										Prostate(3;0.18)			11	68					9.05144e-12	2.46191e-11	0.001855	1	0
ANKRD26	22852	broad.mit.edu	37	10	27389139	27389139	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:27389139G>T	ENST00000376087.4	-	1	282	c.117C>A	c.(115-117)ggC>ggA	p.G39G	ANKRD26_ENST00000436985.2_Silent_p.G39G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	39						centrosome		p.G39G(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GGACGTGGTAGCCGGGCTGCG	0.662000													38	103					1.47197e-15	4.33568e-15	0.001706	1	0
PPOX	5498	broad.mit.edu	37	1	161138863	161138863	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:161138863C>G	ENST00000367999.4	+	7	963	c.697C>G	c.(697-699)Cta>Gta	p.L233V	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.L233V|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	233					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	p.L233V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCGTGGAGGTCTAGAGATGTT	0.612000													18	247					0	0	0.006122	0	0
PDE3A	5139	broad.mit.edu	37	12	20522729	20522729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:20522729G>T	ENST00000359062.3	+	1	551	c.511G>T	c.(511-513)Gaa>Taa	p.E171*	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	171					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E171*(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGCGGGGGGGAAGCGCTCGT	0.697000													13	71					7.93312e-07	1.86054e-06	0.002450	1	0
PLXNC1	10154	broad.mit.edu	37	12	94542933	94542933	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:94542933C>T	ENST00000258526.4	+	1	435	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	62	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.G62G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGGCGAGCGGCAGCTGCCTGG	0.726000													12	23					0	0	0.002450	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958118	143958118	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:143958118C>A	ENST00000292427.4	-	4	811	c.779G>T	c.(778-780)tGg>tTg	p.W260L	CYP11B1_ENST00000377675.3_Missense_Mutation_p.W331L|CYP11B1_ENST00000517471.1_Missense_Mutation_p.W260L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	260					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.W260L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GATGCAGTCCCAGGCCTCAAA	0.612000									Familial Hyperaldosteronism type I				15	4					3.45872e-05	7.73235e-05	0.004007	1	0
UBA1	7317	broad.mit.edu	37	X	47071826	47071826	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:47071826A>G	ENST00000335972.6	+	21	2651	c.2468A>G	c.(2467-2469)gAc>gGc	p.D823G	UBA1_ENST00000377269.3_Missense_Mutation_p.D271G|UBA1_ENST00000377351.4_Missense_Mutation_p.D823G	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	823					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	p.D823G(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CATGCAGATGACAGTCGTCTA	0.527000													5	17					0	0	0.000602	0	0
MAGI1	9223	broad.mit.edu	37	3	65342517	65342517	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:65342517C>A	ENST00000402939.2	-	23	3924	c.3925G>T	c.(3925-3927)Gcc>Tcc	p.A1309S	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1338					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.A1309S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCGCGCTCGGCCTGCGCGTCC	0.692000													12	46					1.08611e-07	2.60122e-07	0.000978	1	0
GRK4	2868	broad.mit.edu	37	4	3040188	3040188	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:3040188C>T	ENST00000398052.4	+	15	1974	c.1631C>T	c.(1630-1632)aCc>aTc	p.T544I	GRK4_ENST00000398051.4_Intron|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000345167.6_Missense_Mutation_p.T512I|GRK4_ENST00000504933.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	544						cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.T544I(1)		lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACATACATACCCCGGTTTCC	0.373000													68	127					0	0	0.003610	0	0
CES5A	221223	broad.mit.edu	37	16	55880441	55880441	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:55880441G>A	ENST00000521992.1	-	14	1882	c.1737C>T	c.(1735-1737)tcC>tcT	p.S579S	CES5A_ENST00000319165.9_Silent_p.S500S|CES5A_ENST00000520435.1_Silent_p.S520S|CES5A_ENST00000518005.1_Silent_p.S444S|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000290567.9_Silent_p.S550S	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	550						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.S579S(1)|p.S500S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGAGCATGTCGGAGGCAGACA	0.488000													95	79					0	0	0.003610	0	0
TRRAP	8295	broad.mit.edu	37	7	98508155	98508155	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:98508155G>T	ENST00000359863.4	+	16	1946	c.1737G>T	c.(1735-1737)aaG>aaT	p.K579N	TRRAP_ENST00000446306.3_Missense_Mutation_p.K578N|TRRAP_ENST00000355540.3_Missense_Mutation_p.K579N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	579					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.K579N(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCCAACAAGCAGTTACAAC	0.353000													21	44					1.50039e-11	4.03677e-11	0.001882	1	0
PRDM2	7799	broad.mit.edu	37	1	14106796	14106796	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:14106796G>T	ENST00000235372.7	+	8	3362	c.2506G>T	c.(2506-2508)Ggt>Tgt	p.G836C	PRDM2_ENST00000343137.4_Missense_Mutation_p.G635C|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G836C|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.G635C	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	836						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G836C(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAAGGCTGAGGGTACAGGCAA	0.443000													26	28					3.6726e-16	1.09737e-15	0.003954	1	0
MIA3	375056	broad.mit.edu	37	1	222802876	222802876	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:222802876G>T	ENST00000344922.5	+	4	2339	c.2314G>T	c.(2314-2316)Gat>Tat	p.D772Y	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.D772Y	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	772					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.D772Y(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CATTCATCCAGATCCAGAAAT	0.443000													42	37					3.77171e-38	1.35891e-37	0.003610	1	0
MMP19	4327	broad.mit.edu	37	12	56232336	56232336	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:56232336G>T	ENST00000409200.3	-	5	808	c.703C>A	c.(703-705)Cct>Act	p.P235T	MMP19_ENST00000548629.1_Intron|MMP19_ENST00000322569.4_Intron			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	432					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CAGGCCTCAGGATCAGCAGGC	0.582000													21	39					2.4624e-09	6.25922e-09	0.001216	1	0
SGOL2	151246	broad.mit.edu	37	2	201434433	201434433	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:201434433T>A	ENST00000357799.4	+	6	619	c.521T>A	c.(520-522)aTg>aAg	p.M174K	SGOL2_ENST00000409203.3_Missense_Mutation_p.M174K	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	174					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.M174K(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAGAGAAAATGCAGTGTGAC	0.323000													34	25					0	0	0.002445	0	0
HDAC9	9734	broad.mit.edu	37	7	18705955	18705955	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:18705955C>A	ENST00000406451.3	+	12	1728	c.1578C>A	c.(1576-1578)agC>agA	p.S526R	HDAC9_ENST00000432645.2_Missense_Mutation_p.S526R|HDAC9_ENST00000417496.2_Missense_Mutation_p.S524R|HDAC9_ENST00000405010.3_Missense_Mutation_p.S526R|HDAC9_ENST00000428307.2_Missense_Mutation_p.S482R|HDAC9_ENST00000441542.2_Missense_Mutation_p.S529R|HDAC9_ENST00000406072.1_Missense_Mutation_p.S513R|HDAC9_ENST00000456174.2_Missense_Mutation_p.S498R|HDAC9_ENST00000524023.1_Missense_Mutation_p.S449R|HDAC9_ENST00000401921.1_Missense_Mutation_p.S485R	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	526					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.S529R(2)|p.S524R(1)|p.S526R(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GTGGCAACAGCACTAGGAGCG	0.552000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	35					9.04072e-19	2.84496e-18	0.003271	1	0
KCTD3	51133	broad.mit.edu	37	1	215793562	215793562	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:215793562G>C	ENST00000259154.4	+	18	2344	c.2050G>C	c.(2050-2052)Gtc>Ctc	p.V684L	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	684						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.V684L(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGAAAGAGCTGTCCCTGAAAA	0.403000													15	60					0	0	0.004007	0	0
ERCC6	2074	broad.mit.edu	37	10	50732718	50732718	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:50732718G>C	ENST00000355832.5	-	5	836	c.758C>G	c.(757-759)cCt>cGt	p.P253R	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.P253R|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.P253R|PGBD3_ENST00000603152.1_Missense_Mutation_p.P253R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	253					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.P253R(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGTTTCTGAGGGATCTGGGT	0.488000								Direct reversal of damage;Nucleotide excision repair (NER)					26	114					0	0	0.001512	0	0
ANK1	286	broad.mit.edu	37	8	41552783	41552783	+	Silent	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:41552783C>G	ENST00000396942.1	-	27	3110	c.3027G>C	c.(3025-3027)ctG>ctC	p.L1009L	ANK1_ENST00000396945.1_Silent_p.L1009L|ANK1_ENST00000265709.8_Silent_p.L1050L|ANK1_ENST00000289734.7_Silent_p.L1009L|ANK1_ENST00000347528.4_Silent_p.L1009L|ANK1_ENST00000352337.4_Silent_p.L1009L|ANK1_ENST00000379758.2_Silent_p.L1009L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1009	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.L1050L(1)|p.L1009L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTTCGCTCCTCAGAACCACGA	0.622000													82	58					0	0	0.003610	0	0
SLC6A17	388662	broad.mit.edu	37	1	110737248	110737248	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:110737248G>T	ENST00000331565.4	+	9	1832	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	449					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.M449I(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGAGGCCATGACGCACTTCC	0.627000													5	17					0.00116845	0.00249549	0.001168	1	0
SLC35F1	222553	broad.mit.edu	37	6	118606475	118606475	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:118606475T>G	ENST00000360388.4	+	7	1177	c.976T>G	c.(976-978)Tgt>Ggt	p.C326G		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	326					transport	integral to membrane		p.C326G(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CAGCCTGTTCTGTGGATTGTT	0.443000											OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	121	142					0	0	0.003610	0	0
CCDC178	374864	broad.mit.edu	37	18	30518004	30518004	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr18:30518004T>A	ENST00000383096.3	-	23	2757	c.2575A>T	c.(2575-2577)Aca>Tca	p.T859S	CCDC178_ENST00000402325.1_Missense_Mutation_p.T809S|CCDC178_ENST00000579916.1_Missense_Mutation_p.T179S|CCDC178_ENST00000581852.1_Missense_Mutation_p.T64S|CCDC178_ENST00000300227.8_Missense_Mutation_p.T821S|RP11-746B8.1_ENST00000580366.1_RNA|CCDC178_ENST00000583930.1_Missense_Mutation_p.T883S|CCDC178_ENST00000406524.2_Missense_Mutation_p.T883S|CCDC178_ENST00000403303.1_Missense_Mutation_p.T859S					coiled-coil domain containing 178									p.T821S(1)|p.T859S(1)									GTGCCATCTGTCAAAGTCTGG	0.343000													22	17					0	0	0.001786	0	0
RBP2	5948	broad.mit.edu	37	3	139181127	139181127	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:139181127C>T	ENST00000232217.2	-	2	135	c.79G>A	c.(79-81)Gat>Aat	p.D27N	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	27					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	p.D27N(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	GTGGCAAAATCAATATCTGTT	0.423000													31	37					0	0	0.001512	0	0
OR5T3	390154	broad.mit.edu	37	11	56020494	56020494	+	Silent	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:56020494T>A	ENST00000303059.3	+	1	819	c.819T>A	c.(817-819)tcT>tcA	p.S273S		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S273S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CATGTGGCTCTCACCTAACTG	0.413000													28	111					0	0	0.005443	0	0
MKL2	57496	broad.mit.edu	37	16	14280892	14280892	+	Splice_Site	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:14280892G>T	ENST00000341243.5	+	1	121	c.121_splice	c.e1+1	p.V41_splice	MKL2_ENST00000571589.1_Intron|MKL2_ENST00000572567.1_Splice_Site_p.V41_splice|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000574045.1_Intron			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	41					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTCAAGGAAGGTCAGTCTGT	0.478000													9	8					5.4927e-09	1.37928e-08	0.004482	1	0
MYH13	8735	broad.mit.edu	37	17	10206531	10206531	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:10206531C>T	ENST00000418404.3	-	38	5812	c.5649G>A	c.(5647-5649)aaG>aaA	p.K1883K	MYH13_ENST00000252172.4_Silent_p.K1883K|MYH13_ENST00000570743.1_Silent_p.K1883K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1883					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1883K(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGCCTGCCTCTTGTAAGACT	0.592000													82	59					0	0	0.003610	0	0
OR7G3	390883	broad.mit.edu	37	19	9236946	9236946	+	Silent	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:9236946T>C	ENST00000305444.2	-	1	680	c.681A>G	c.(679-681)aaA>aaG	p.K227K		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K227K(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CTGATGGAATTTTCATGACAG	0.418000													4	107					0	0	0.000602	0	0
ATP7B	540	broad.mit.edu	37	13	52515216	52515216	+	Splice_Site	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr13:52515216C>A	ENST00000242839.4	-	16	3713		c.e16+1		ATP7B_ENST00000448424.2_Splice_Site|ATP7B_ENST00000344297.5_Splice_Site|ATP7B_ENST00000400370.3_Splice_Site|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Splice_Site|ATP7B_ENST00000418097.2_Splice_Site|ATP7B_ENST00000417240.2_Splice_Site	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide						ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCAGAAGATACCGTCAATAGC	0.458000									Wilson disease				18	39					2.94398e-08	7.26066e-08	0.000958	1	0
B3GALTL	145173	broad.mit.edu	37	13	31858870	31858870	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr13:31858870G>A	ENST00000343307.4	+	11	1085	c.936G>A	c.(934-936)gtG>gtA	p.V312V	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	312					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.V312V(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TTCCTACTGTGGATTTGGGAA	0.348000													20	11					0	0	0.001882	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84562936	84562936	+	RNA	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:84562936C>G	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							TGCTGTGGGGCCTTCCCCGCA	0.418000													6	14					0	0	0.001984	0	0
DOT1L	84444	broad.mit.edu	37	19	2226932	2226932	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:2226932G>C	ENST00000398665.3	+	27	4448	c.4412G>C	c.(4411-4413)gGa>gCa	p.G1471A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1471						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.G1471A(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCCCGCCGGGACCGCAGTTC	0.771000													13	6					0	0	0.004007	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17369045	17369045	+	Silent	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:17369045T>A	ENST00000377602.4	-	6	677	c.603A>T	c.(601-603)ggA>ggT	p.G201G		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	201					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.G201G(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CTATTTCAGTTCCACAGAGAG	0.413000													37	40					0	0	0.004878	0	0
RNF219	79596	broad.mit.edu	37	13	79189871	79189871	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr13:79189871C>T	ENST00000282003.6	-	6	2083	c.2025G>A	c.(2023-2025)atG>atA	p.M675I	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	675	Ser-rich.						zinc ion binding	p.M675I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCTCTGAGGACATCTTAAACA	0.388000													65	33					0	0	0.003610	0	0
MLLT3	4300	broad.mit.edu	37	9	20365688	20365688	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:20365688G>C	ENST00000380338.4	-	6	1466	c.1180C>G	c.(1180-1182)Cca>Gca	p.P394A	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000380321.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.P391A	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.P394A(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GTCTGGGATGGTGTGAagctg	0.468000			T	MLL	ALL								24	87					0	0	0.004656	0	0
LMNB2	84823	broad.mit.edu	37	19	2438277	2438277	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:2438277C>A	ENST00000325327.3	-	4	630	c.568G>T	c.(568-570)Ggt>Tgt	p.G190C	LMNB2_ENST00000582871.1_Missense_Mutation_p.G170C			Q03252	LMNB2_HUMAN	lamin B2	170	Coil 1B.|Rod.					nuclear inner membrane	structural molecule activity	p.G170C(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGCATGACCGTCCTCGGCC	0.612000													15	13					1.3612e-06	3.17444e-06	0.003163	1	0
LRRC18	474354	broad.mit.edu	37	10	50121436	50121436	+	Splice_Site	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:50121436C>T	ENST00000374160.3	-	1	841		c.e1+1		WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Silent_p.R255R	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18							cytoplasm		p.?(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTCCAAGTCACCTCCAGTCTT	0.552000													47	119					0	0	0.003610	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091192	143091192	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:143091192T>A	ENST00000367603.2	-	5	5426	c.4684A>T	c.(4684-4686)Agc>Tgc	p.S1562C	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1562C|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1562C	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1562	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1562C(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GATTCTTTGCTTTCAGAAGGC	0.537000													74	61					0	0	0.003610	0	0
SHANK1	50944	broad.mit.edu	37	19	51192465	51192465	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:51192465C>A	ENST00000293441.1	-	15	2054	c.2036G>T	c.(2035-2037)cGg>cTg	p.R679L	SHANK1_ENST00000359082.3_Missense_Mutation_p.R670L|SHANK1_ENST00000391813.1_Missense_Mutation_p.R66L|SHANK1_ENST00000391814.1_Missense_Mutation_p.R679L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	679	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.R679L(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTTGGCCCCCCGGAGCACGAA	0.612000													35	30					1.71298e-08	4.25847e-08	0.003755	1	0
TRAF7	84231	broad.mit.edu	37	16	2222317	2222317	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:2222317C>T	ENST00000326181.6	+	8	733	c.601C>T	c.(601-603)Ccc>Tcc	p.P201S		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	201					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P201S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CGGGAAGCCCCCCATCTTTGA	0.677000													5	17					0	0	0.001168	0	0
ITGAD	3681	broad.mit.edu	37	16	31427891	31427891	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:31427891G>T	ENST00000389202.2	+	20	2472	c.2423G>T	c.(2422-2424)gGt>gTt	p.G808V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	808					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G808F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGAACGCAGGTGAGGATTCC	0.612000													39	49					3.38236e-24	1.12114e-23	0.001485	1	0
ACAN	176	broad.mit.edu	37	15	89400720	89400720	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:89400720G>A	ENST00000439576.2	+	12	5278	c.4904G>A	c.(4903-4905)gGg>gAg	p.G1635E	ACAN_ENST00000352105.7_Missense_Mutation_p.G1635E|ACAN_ENST00000561243.1_Missense_Mutation_p.G1635E|ACAN_ENST00000559004.1_Missense_Mutation_p.G1635E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1635					cell adhesion		hyaluronic acid binding|sugar binding	p.G1521E(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGTATTCTGGGGTGGACCTT	0.517000													73	48					0	0	0.003610	0	0
NLRP5	126206	broad.mit.edu	37	19	56538872	56538872	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:56538872C>T	ENST00000390649.3	+	7	1273	c.1273C>T	c.(1273-1275)Cgt>Tgt	p.R425C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	425	NACHT.					mitochondrion|nucleolus	ATP binding	p.R425S(1)|p.R425C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTGTCTCCCCGTTACCTGTT	0.552000													11	6					0	0	0.000673	0	0
NR1I3	9970	broad.mit.edu	37	1	161199615	161199615	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:161199615A>T	ENST00000367983.4	-	9	1313	c.1019T>A	c.(1018-1020)aTg>aAg	p.M340K	NR1I3_ENST00000367980.2_Missense_Mutation_p.M349K|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.M349K|NR1I3_ENST00000511676.1_Missense_Mutation_p.M311K|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.M301K|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000479324.1_5'UTR|TOMM40L_ENST00000367987.1_3'UTR|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000367982.4_Missense_Mutation_p.M344K|NR1I3_ENST00000504010.1_Missense_Mutation_p.M272K|TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000367981.3_Missense_Mutation_p.M316K|NR1I3_ENST00000502985.1_3'UTR|NR1I3_ENST00000367985.3_Missense_Mutation_p.M306K|TOMM40L_ENST00000367988.3_3'UTR|NR1I3_ENST00000515621.1_Missense_Mutation_p.M265K|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000442691.2_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	344					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.M340K(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAGCAGCGGCATCATGGCAGA	0.572000													181	36					0	0	0.003610	0	0
MYT1L	23040	broad.mit.edu	37	2	1983510	1983510	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:1983510A>T	ENST00000399161.2	-	6	787	c.40T>A	c.(40-42)Tcc>Acc	p.S14T	MYT1L_ENST00000428368.2_Missense_Mutation_p.S14T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	14					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S14N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCCCTTTGGACCGCGTGCGA	0.602000													6	11					0	0	0.001168	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76779642	76779642	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:76779642C>A	ENST00000328299.3	+	2	319	c.171C>A	c.(169-171)ccC>ccA	p.P57P	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	57					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.P57P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACAGGCGGCCCCTTCGAACTC	0.433000													48	33					3.50607e-19	1.11745e-18	0.003610	1	0
CAPN3	825	broad.mit.edu	37	15	42676731	42676731	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:42676731C>T	ENST00000397163.3	+	2	579	c.360C>T	c.(358-360)gaC>gaT	p.D120D	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.D120D|CAPN3_ENST00000356316.3_Silent_p.D33D|CAPN3_ENST00000318023.7_Silent_p.D120D|CAPN3_ENST00000349748.3_Silent_p.D120D	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	120	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.D120D(1)|p.D33D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACAGAACTGACATCTGTCAAG	0.453000													56	38					0	0	0.003610	0	0
DCTD	1635	broad.mit.edu	37	4	183836721	183836721	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:183836721T>A	ENST00000357067.3	-	2	99	c.34A>T	c.(34-36)Atg>Ttg	p.M12L	DCTD_ENST00000510370.1_Start_Codon_SNP_p.M1L|DCTD_ENST00000438320.2_Start_Codon_SNP_p.M1L	NM_001012732.1	NP_001012750.1	P32321	DCTD_HUMAN	dCMP deaminase	1					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	p.M1L(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		ACTTCACTCATGTTGGGTCTA	0.403000													111	120					0	0	0.003610	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	25					0	0	0.000248	0	0
ABCD2	225	broad.mit.edu	37	12	40012821	40012821	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:40012821C>T	ENST00000308666.3	-	1	732	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	199	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.M199I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GCCTCCCATCCATATTGATCA	0.418000													58	68					0	0	0.003610	0	0
CORIN	10699	broad.mit.edu	37	4	47746498	47746498	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:47746498G>T	ENST00000273857.4	-	5	719	c.720C>A	c.(718-720)tgC>tgA	p.C240*	CORIN_ENST00000504584.1_Nonsense_Mutation_p.C240*|CORIN_ENST00000505909.1_Nonsense_Mutation_p.C240*|CORIN_ENST00000508498.1_Nonsense_Mutation_p.C101*|CORIN_ENST00000502252.1_Nonsense_Mutation_p.C173*	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	240	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.C240*(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TAAACTGGGAGCATCTGAGGA	0.478000													92	141					3.04226e-33	1.07736e-32	0.003610	1	0
PCSK5	5125	broad.mit.edu	37	9	78547386	78547386	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:78547386C>A	ENST00000545128.1	+	2	822	c.284C>A	c.(283-285)tCa>tAa	p.S95*	PCSK5_ENST00000376752.4_Nonsense_Mutation_p.S95*|PCSK5_ENST00000376767.3_Nonsense_Mutation_p.S95*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	95					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.S95*(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGTTTCATTTCAATGGAACCA	0.478000													39	29					1.59361e-14	4.58531e-14	0.001485	1	0
RGS3	5998	broad.mit.edu	37	9	116279874	116279874	+	Silent	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:116279874G>C	ENST00000374140.2	+	17	1937	c.1728G>C	c.(1726-1728)ctG>ctC	p.L576L	RGS3_ENST00000394646.3_Silent_p.L295L|RGS3_ENST00000374136.1_Silent_p.L202L|RGS3_ENST00000343817.5_Silent_p.L295L|RGS3_ENST00000350696.5_Silent_p.L576L|RGS3_ENST00000317613.6_Silent_p.L464L	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	576					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.L464L(1)|p.L472L(1)|p.L576L(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGGAGCTGCTGCTGTATGAAG	0.542000													27	77					0	0	0.002096	0	0
H2BFWT	158983	broad.mit.edu	37	X	103268067	103268067	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:103268067G>T	ENST00000217926.5	-	1	192	c.166C>A	c.(166-168)Cag>Aag	p.Q56K		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	56					nucleosome assembly	nuclear membrane|nucleosome	DNA binding	p.Q56K(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						CTCTGCTTCTGGGACGTAGTG	0.637000													16	9					2.23348e-06	5.16987e-06	0.004007	1	0
GRM7	2917	broad.mit.edu	37	3	7620333	7620333	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:7620333C>T	ENST00000486284.1	+	8	2014	c.1740C>T	c.(1738-1740)ccC>ccT	p.P580P	GRM7_ENST00000403881.1_Silent_p.P580P|GRM7_ENST00000389336.4_Silent_p.P580P|GRM7_ENST00000357716.4_Silent_p.P580P|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Silent_p.P580P	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	580					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.P580P(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGGATATTCCCATCATCAAAC	0.512000													42	43					0	0	0.002852	0	0
HCCAT5	283902	broad.mit.edu	37	16	73126860	73126860	+	RNA	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:73126860T>A	ENST00000569990.2	+	0	613					NR_027756.1																						TCCCTTCGTTTATGCTCTGTG	0.478000													48	49					0	0	0.003610	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84561634	84561634	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:84561634G>T	ENST00000286744.5	+	13	1685	c.1461G>T	c.(1459-1461)tgG>tgT	p.W487C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.W487C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	487	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.W487F(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCATGGAGTGGTCTCAGGTAA	0.408000													17	11					4.63292e-17	1.408e-16	0.001216	1	0
NDST4	64579	broad.mit.edu	37	4	115891729	115891729	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:115891729C>A	ENST00000264363.2	-	4	1756	c.1078G>T	c.(1078-1080)Gaa>Taa	p.E360*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	360	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.E360*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCTTCATCTTCCTCTTCAGTC	0.373000													16	15					2.23348e-06	5.16987e-06	0.004007	1	0
TCHH	7062	broad.mit.edu	37	1	152080220	152080220	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:152080220C>T	ENST00000368804.1	-	2	5472	c.5473G>A	c.(5473-5475)Gaa>Aaa	p.E1825K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1825	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.E1825K(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGCTCTTCTTCCCAGCGA	0.597000													16	205					0	0	0.004990	0	0
EP400	57634	broad.mit.edu	37	12	132497649	132497649	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:132497649C>G	ENST00000333577.4	+	18	3754	c.3645C>G	c.(3643-3645)tgC>tgG	p.C1215W	EP400_ENST00000330386.6_Missense_Mutation_p.C1179W|EP400_ENST00000332482.4_Missense_Mutation_p.C1142W|EP400_ENST00000389562.2_Missense_Mutation_p.C1178W|EP400_ENST00000389561.2_Missense_Mutation_p.C1179W			Q96L91	EP400_HUMAN	E1A binding protein p400	1215	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.C1178W(1)		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)		GCTGGAAGTGCCTGGTCATTG	0.587000													16	43					0	0	0.004990	0	0
NCOA6	23054	broad.mit.edu	37	20	33338275	33338275	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:33338275C>A	ENST00000374796.2	-	10	4293	c.1723G>T	c.(1723-1725)Ggg>Tgg	p.G575W	NCOA6_ENST00000359003.2_Missense_Mutation_p.G575W			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	575	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.G575W(1)		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						TTTGGCGGCCCGTGGGACACC	0.448000													40	45					3.43241e-23	1.1317e-22	0.002222	1	0
OR10K1	391109	broad.mit.edu	37	1	158435743	158435743	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:158435743G>A	ENST00000289451.2	+	1	472	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AACCCACTGCGCTACTCAGTG	0.537000													33	450					0	0	0.003271	0	0
FAM71B	153745	broad.mit.edu	37	5	156590559	156590559	+	Missense_Mutation	SNP	A	A	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:156590559A>C	ENST00000302938.4	-	2	812	c.717T>G	c.(715-717)caT>caG	p.H239Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	239	Ala-rich.					nucleus		p.H239Q(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGTGGGAGGCATGTTGGATTC	0.587000													35	33					0	0	0.001287	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976087	120976087	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:120976087T>C	ENST00000273666.6	+	17	2010	c.1739T>C	c.(1738-1740)cTc>cCc	p.L580P	STXBP5L_ENST00000472879.1_Missense_Mutation_p.L580P|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L580P|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L580P|STXBP5L_ENST00000497029.1_Missense_Mutation_p.L580P	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	580					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.L580P(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTCCAGATCTCTCAGCCCAG	0.408000													53	87					0	0	0.003610	0	0
SNHG14	104472715	broad.mit.edu	37	15	25427653	25427653	+	RNA	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:25427653G>C	ENST00000424208.1	+	0	272					NR_003305.1																						CTGGGATTCCGAGGTCCCCAG	0.542000													77	99					0	0	0.003610	0	0
NDUFS1	4719	broad.mit.edu	37	2	206997805	206997805	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:206997805T>G	ENST00000233190.5	-	14	1683	c.1417A>C	c.(1417-1419)Atg>Ctg	p.M473L	NDUFS1_ENST00000449699.1_Missense_Mutation_p.M473L|NDUFS1_ENST00000423725.1_Missense_Mutation_p.M416L|NDUFS1_ENST00000432169.1_Missense_Mutation_p.M362L|NDUFS1_ENST00000440274.1_Missense_Mutation_p.M437L|NDUFS1_ENST00000457011.1_Missense_Mutation_p.M357L|NDUFS1_ENST00000455934.2_Missense_Mutation_p.M487L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	473					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.M473L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	AAAACCACCATTGGTTTTTTA	0.353000													16	24					0	0	0.003163	0	0
AGO4	192670	broad.mit.edu	37	1	36316599	36316599	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:36316599G>T	ENST00000373210.3	+	17	2667	c.2422G>T	c.(2422-2424)Gcc>Tcc	p.A808S	AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4									p.A808S(1)									TGCATATTATGCCCGGCTTGT	0.453000													9	28					0.000274275	0.000599163	0.004482	1	0
DPP10	57628	broad.mit.edu	37	2	116485436	116485436	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:116485436G>T	ENST00000410059.1	+	8	1101	c.621G>T	c.(619-621)aaG>aaT	p.K207N	DPP10_ENST00000310323.8_Missense_Mutation_p.K200N|DPP10_ENST00000393147.2_Missense_Mutation_p.K211N|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.K157N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	207					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.K200N(1)|p.K207N(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTGATATAAAGAGCAGTTCAT	0.318000													15	25					6.31663e-08	1.53052e-07	0.003163	1	0
OR2A14	135941	broad.mit.edu	37	7	143826632	143826632	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:143826632C>A	ENST00000408899.2	+	1	482	c.427C>A	c.(427-429)Ctg>Atg	p.L143M		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L143M(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GTGCACTGTCCTGGCTGTGGC	0.532000													72	202					2.6465e-34	9.45288e-34	0.003610	1	0
JMJD1C	221037	broad.mit.edu	37	10	64950684	64950684	+	Silent	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:64950684G>C	ENST00000399262.2	-	17	6479	c.6261C>G	c.(6259-6261)gcC>gcG	p.A2087A	JMJD1C_ENST00000542921.1_Silent_p.A1905A|JMJD1C_ENST00000402544.1_Silent_p.A1850A|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2087					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.A2087A(1)|p.A1850A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGGGGCAAAGGCAATGCCAG	0.453000													10	46					0	0	0.000443	0	0
AGAP6	414189	broad.mit.edu	37	10	51749089	51749089	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:51749089C>G	ENST00000412531.3	+	2	317	c.245C>G	c.(244-246)gCc>gGc	p.A82G	AGAP6_ENST00000374056.4_Intron	NM_001077665.2	NP_001071133.2	C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	82					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.A82G(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AACCTTTCTGCCAATCCAGAG	0.343000													4	105					0	0	0.004482	0	0
HIP1R	9026	broad.mit.edu	37	12	123345953	123345953	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:123345953C>G	ENST00000253083.4	+	31	3176	c.3051C>G	c.(3049-3051)agC>agG	p.S1017R		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	1017					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding	p.S1017R(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CATCAGGCAGCCCTGGAGAGG	0.662000													18	23					0	0	0.006122	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													6	83					0	0	0.003080	0	0
COL1A2	1278	broad.mit.edu	37	7	94034181	94034181	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:94034181C>A	ENST00000297268.6	+	9	880	c.409C>A	c.(409-411)Cct>Act	p.P137T		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	137					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.P137T(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCAGCTGGCCCTCCTGGCAA	0.393000										HNSCC(75;0.22)			42	110					1.68508e-10	4.4189e-10	0.002222	1	0
INHBA	3624	broad.mit.edu	37	7	41729272	41729272	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:41729272G>T	ENST00000242208.4	-	3	1503	c.1257C>A	c.(1255-1257)atC>atA	p.I419I	INHBA_ENST00000442711.1_Silent_p.I419I|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	419					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.I419I(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACTCCTCCACGATCATGTTCT	0.468000										TSP Lung(11;0.080)			14	62					2.61681e-11	6.95021e-11	0.002450	1	0
ITGAL	3683	broad.mit.edu	37	16	30486638	30486638	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:30486638G>T	ENST00000356798.6	+	3	356	c.176G>T	c.(175-177)gGa>gTa	p.G59V	ITGAL_ENST00000454514.2_Missense_Mutation_p.G59V|ITGAL_ENST00000358164.5_Missense_Mutation_p.G59V|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	59					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.G59V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GTCATCGTGGGAGCTCCAGGG	0.587000													20	94					4.96729e-08	1.21066e-07	0.001216	1	0
EIF4E3	317649	broad.mit.edu	37	3	71733846	71733846	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:71733846C>A	ENST00000448225.1	-	8	800	c.344G>T	c.(343-345)cGt>cTt	p.R115L	EIF4E3_ENST00000421769.2_Missense_Mutation_p.R115L|EIF4E3_ENST00000295612.3_Missense_Mutation_p.R115L|EIF4E3_ENST00000468147.1_5'UTR|EIF4E3_ENST00000389826.3_Missense_Mutation_p.R115L|EIF4E3_ENST00000425534.2_Missense_Mutation_p.R221L	NM_001134649.1	NP_001128121.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3	221	7-methylguanosine-containing mRNA cap binding (By similarity).				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	p.R115L(1)|p.R221L(1)		large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		GTGTTTTCCACGTCCACCTTC	0.398000													12	61					4.36969e-10	1.13393e-09	0.001855	1	0
AHR	196	broad.mit.edu	37	7	17374587	17374587	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:17374587G>A	ENST00000242057.4	+	8	1628	c.985G>A	c.(985-987)Gat>Aat	p.D329N		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	329	PAS 2.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.D329N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TCATGCAGCTGATATGCTTTA	0.363000													22	74					0	0	0.002299	0	0
SERPINA7	6906	broad.mit.edu	37	X	105281047	105281047	+	Translation_Start_Site	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:105281047C>A	ENST00000327674.4	-	1	338	c.3G>T	c.(1-3)atG>atT	p.M1I	SERPINA7_ENST00000372563.1_Start_Codon_SNP_p.M1I			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	1					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.M1I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGAATGGTGACATTTTGGAAG	0.448000													13	22					1.67942e-08	4.18339e-08	0.006122	1	0
BOD1L1	259282	broad.mit.edu	37	4	13571655	13571655	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:13571655C>A	ENST00000040738.5	-	26	9271	c.9136G>T	c.(9136-9138)Gtg>Ttg	p.V3046L		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	3046							DNA binding	p.V3046L(1)									GCTTTTTTCACAGGGGCTTCC	0.552000													15	15					0.00244969	0.00518734	0.002450	1	0
LOC440040	440040	broad.mit.edu	37	11	49598361	49598361	+	RNA	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:49598361C>G	ENST00000527477.1	+	0	965																											TCAAATATTTCATGAGGGTTG	0.463000													22	38					0	0	0.002299	0	0
OR5D16	390144	broad.mit.edu	37	11	55606473	55606473	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:55606473G>C	ENST00000378396.1	+	1	246	c.246G>C	c.(244-246)atG>atC	p.M82I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M82I(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTGCTCCCATGATGCTGGTGA	0.388000													43	189					0	0	0.003610	0	0
MIR1269A	100302177	broad.mit.edu	37	4	67142601	67142601	+	RNA	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:67142601G>T	ENST00000408636.1	+	0	60					NR_031673.1																						gaccacctgaggaatgcctgg	0.542000													8	49					0.000274275	0.000599163	0.004482	1	0
RIMS2	9699	broad.mit.edu	37	8	104987690	104987690	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:104987690A>G	ENST00000507740.1	+	13	2495	c.2259A>G	c.(2257-2259)atA>atG	p.I753M	RIMS2_ENST00000406091.3_Missense_Mutation_p.I961M|RIMS2_ENST00000436393.2_Missense_Mutation_p.I739M|RIMS2_ENST00000262231.10_Missense_Mutation_p.I800M	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1023	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.I753M(2)|p.I961M(1)|p.I739M(1)|p.I1028M(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGATGTTATAGGAAGGACTA	0.428000										HNSCC(12;0.0054)			26	30					0	0	0.005443	0	0
MUC16	94025	broad.mit.edu	37	19	9017374	9017374	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:9017374G>T	ENST00000397910.4	-	26	38153	c.37950C>A	c.(37948-37950)acC>acA	p.T12650T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12652	SEA 4.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T12650T(1)		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						TCCTGTCCAGGGTGTAGGGGC	0.572000													43	102					1.41504e-22	4.62865e-22	0.002852	1	0
KIAA1755	85449	broad.mit.edu	37	20	36852001	36852001	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:36852001G>T	ENST00000279024.4	-	9	2478	c.2207C>A	c.(2206-2208)tCt>tAt	p.S736Y		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	736								p.S736Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TAGCAGGGAAGAGGCCTGGTG	0.602000													7	14					0.00307968	0.00647723	0.003080	1	0
TAAR6	319100	broad.mit.edu	37	6	132891511	132891511	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:132891511C>A	ENST00000275198.1	+	1	51	c.51C>A	c.(49-51)aaC>aaA	p.N17K		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	17						plasma membrane	G-protein coupled receptor activity	p.N17K(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCTACGCGAACGTGAATGGGT	0.493000													21	78					1.50039e-11	4.03677e-11	0.001882	1	0
KCTD2	23510	broad.mit.edu	37	17	73043644	73043644	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:73043644G>A	ENST00000322444.6	+	1	305	c.299G>A	c.(298-300)cGc>cAc	p.R100H	KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	100	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R100H(1)		kidney(1)|lung(2)	3	all_lung(278;0.226)					TTTCTCTGCCGCCTCTGCTGC	0.687000													6	21					0	0	0.003080	0	0
PDIA5	10954	broad.mit.edu	37	3	122865001	122865001	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:122865001G>T	ENST00000316218.7	+	13	1132	c.1037G>T	c.(1036-1038)aGa>aTa	p.R346I	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	346	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.R346I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CTGGCAGAAAGATTCCACATC	0.498000													44	115					5.44703e-19	1.73163e-18	0.002222	1	0
NUP210L	91181	broad.mit.edu	37	1	153982511	153982511	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:153982511T>C	ENST00000368559.3	-	35	4938	c.4867A>G	c.(4867-4869)Act>Gct	p.T1623A	NUP210L_ENST00000368553.1_Missense_Mutation_p.T556A|NUP210L_ENST00000271854.3_Missense_Mutation_p.T1623A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1623						integral to membrane		p.T1623A(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCTAGCAAAGTATTACTGAAC	0.433000													29	383					0	0	0.003271	0	0
GFM2	84340	broad.mit.edu	37	5	74034397	74034397	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:74034397C>T	ENST00000296805.3	-	13	1607	c.1150G>A	c.(1150-1152)Gtt>Att	p.V384I	GFM2_ENST00000427854.2_Missense_Mutation_p.V384I|GFM2_ENST00000509430.1_Missense_Mutation_p.V384I|GFM2_ENST00000345239.2_Intron	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	384					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	p.V384I(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CGCATAAAAACCAGTGGTCCT	0.363000													28	54					0	0	0.001271	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85521615	85521615	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:85521615C>T	ENST00000393217.2	+	18	4074	c.4013C>T	c.(4012-4014)gCa>gTa	p.A1338V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1338	IQ 2.							p.A1338V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATAGTATGGCAGCTGTGGTA	0.388000													59	106					0	0	0.003610	0	0
LAMA4	3910	broad.mit.edu	37	6	112469461	112469461	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:112469461C>T	ENST00000230538.7	-	18	2648	c.2251G>A	c.(2251-2253)Gcc>Acc	p.A751T	LAMA4_ENST00000424408.2_Missense_Mutation_p.A744T|LAMA4_ENST00000389463.4_Missense_Mutation_p.A744T|LAMA4_ENST00000522006.1_Missense_Mutation_p.A744T	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	751	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.A744T(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGGGCAGTGGCCTGCTGCACC	0.542000													16	28					0	0	0.003163	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473103	22473103	+	RNA	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:22473103C>A	ENST00000557788.2	-	0	167																											GCTGGCGGACCCAGCTCCACC	0.597000													16	52					3.52763e-06	8.12009e-06	0.004990	1	0
GAB4	128954	broad.mit.edu	37	22	17445735	17445735	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr22:17445735C>A	ENST00000400588.1	-	8	1504	c.1397G>T	c.(1396-1398)aGc>aTc	p.S466I		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	466								p.S466I(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TTGGGAGGAGCTGGAGTCAAA	0.592000													18	16					2.4624e-09	6.25922e-09	0.001216	1	0
BBS12	166379	broad.mit.edu	37	4	123664927	123664927	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:123664927C>T	ENST00000542236.1	+	3	2261	c.1880C>T	c.(1879-1881)aCa>aTa	p.T627I	BBS12_ENST00000314218.3_Missense_Mutation_p.T627I	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	627					cellular protein metabolic process	cilium	ATP binding	p.T627I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAAAATGCCACAGACTCTGGC	0.358000									Bardet-Biedl syndrome				13	51					0	0	0.001855	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997282	146997282	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:146997282G>T	ENST00000361727.3	+	9	1914	c.1398G>T	c.(1396-1398)aaG>aaT	p.K466N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	466	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.K466N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCTAGCCAAGGAAAATTTTG	0.408000										HNSCC(39;0.1)			47	47					9.58827e-17	2.89981e-16	0.003610	1	0
RTN1	6252	broad.mit.edu	37	14	60213133	60213133	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr14:60213133G>C	ENST00000267484.5	-	2	643	c.308C>G	c.(307-309)tCg>tGg	p.S103W		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	103					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.S103W(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGTGTAACACGATCCTTCCCC	0.458000													24	24					0	0	0.003330	0	0
SLC4A8	9498	broad.mit.edu	37	12	51890825	51890825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:51890825G>T	ENST00000453097.2	+	22	3215	c.2998G>T	c.(2998-3000)Gag>Tag	p.E1000*	SLC4A8_ENST00000358657.3_Nonsense_Mutation_p.E1027*	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	1000					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	p.E1000*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTCTAAGCGAGAGCTGAGCTG	0.413000													66	114					1.356e-25	4.56778e-25	0.003610	1	0
ZNF43	7594	broad.mit.edu	37	19	22000695	22000695	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:22000695G>C	ENST00000594012.1	-	6	720	c.206C>G	c.(205-207)cCc>cGc	p.P69R	ZNF43_ENST00000598288.1_Missense_Mutation_p.P69R|ZNF43_ENST00000598381.1_Missense_Mutation_p.P69R|ZNF43_ENST00000354959.4_Missense_Mutation_p.P75R|ZNF43_ENST00000595461.1_Missense_Mutation_p.P69R	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P75R(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CCTACCTGGGGGTTTGGCTAC	0.468000													4	180					0	0	0.000248	0	0
LRRC31	79782	broad.mit.edu	37	3	169557830	169557830	+	Silent	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:169557830T>C	ENST00000316428.5	-	9	1656	c.1599A>G	c.(1597-1599)ctA>ctG	p.L533L	LRRC31_ENST00000264676.5_Silent_p.L477L|LRRC31_ENST00000523069.1_3'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	533								p.L533L(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CAAAGCATTCTAGTTCTTCCT	0.403000													30	31					0	0	0.001786	0	0
KCNT2	343450	broad.mit.edu	37	1	196311318	196311318	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:196311318C>G	ENST00000367433.5	-	15	1545	c.1444G>C	c.(1444-1446)Ggt>Cgt	p.G482R	KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000451324.2_Missense_Mutation_p.G93R|KCNT2_ENST00000294725.8_Missense_Mutation_p.G482R|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	482	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.G482L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAGCATCTACCGTACATCTTC	0.418000													12	52					0	0	0.003163	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616851	77616851	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:77616851G>T	ENST00000521891.2	+	2	976	c.528G>T	c.(526-528)aaG>aaT	p.K176N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.K176N|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K176N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.K176N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	176						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K176N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTGGAGAGAAGAGTGATCAGT	0.488000										HNSCC(33;0.089)			13	20					1.5842e-08	3.95414e-08	0.001855	1	0
OR4C15	81309	broad.mit.edu	37	11	55322787	55322787	+	Silent	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:55322787C>G	ENST00000314644.2	+	1	1005	c.1005C>G	c.(1003-1005)ctC>ctG	p.L335L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L335L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATCCCTTGCTCAATCCTTTGA	0.363000										HNSCC(20;0.049)			37	53					0	0	0.005524	0	0
OR14A16	284532	broad.mit.edu	37	1	247978437	247978437	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:247978437G>A	ENST00000357627.1	-	1	594	c.595C>T	c.(595-597)Ctt>Ttt	p.L199F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L199F(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						ACATTAATAAGGATGAGTGCA	0.388000													13	30					0	0	0.002450	0	0
ARSK	153642	broad.mit.edu	37	5	94891012	94891012	+	Silent	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:94891012A>T	ENST00000380009.4	+	1	235	c.30A>T	c.(28-30)gcA>gcT	p.A10A	ARSK_ENST00000504763.1_Silent_p.A10A	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	10						extracellular region	arylsulfatase activity|metal ion binding	p.A10A(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CGGTGGTCGCAGCCTTGGCGC	0.677000													7	14					0	0	0.003080	0	0
RC3H2	54542	broad.mit.edu	37	9	125621032	125621032	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:125621032C>A	ENST00000373670.1	-	11	2799	c.2199G>T	c.(2197-2199)cgG>cgT	p.R733R	RC3H2_ENST00000423239.2_Silent_p.R733R|RC3H2_ENST00000357244.2_Silent_p.R733R			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	733						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	p.R733R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TATATCTTTCCCGCAAAGATG	0.438000													24	117					6.21321e-17	1.88366e-16	0.002780	1	0
CTNNA2	1496	broad.mit.edu	37	2	80801389	80801389	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:80801389C>A	ENST00000466387.1	+	17	2567	c.1843C>A	c.(1843-1845)Ctg>Atg	p.L615M	CTNNA2_ENST00000402739.4_Missense_Mutation_p.L615M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L615M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L615M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L615M|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L294M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L649M			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	615					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.L615M(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGCCTCTCGCCTGGTGTATGA	0.522000													98	59					3.93621e-41	1.43481e-40	0.003610	1	0
TTYH2	94015	broad.mit.edu	37	17	72246134	72246134	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:72246134G>T	ENST00000441391.2	+	3	1239	c.27G>T	c.(25-27)ctG>ctT	p.L9L	TTYH2_ENST00000269346.4_Silent_p.L330L|TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Silent_p.L309L	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	330						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.L330L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CGGGGCTGCTGCAGTTTGCCG	0.637000													27	39					6.04164e-23	1.98671e-22	0.002096	1	0
PARN	5073	broad.mit.edu	37	16	14576651	14576651	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:14576651C>A	ENST00000437198.2	-	22	1655	c.1514G>T	c.(1513-1515)cGg>cTg	p.R505L	PARN_ENST00000539279.1_Missense_Mutation_p.R330L|PARN_ENST00000341484.7_Missense_Mutation_p.R444L|PARN_ENST00000420015.2_Missense_Mutation_p.R459L	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	505					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	p.R505Q(4)|p.R505L(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						GGTTTGGATCCGATAGCTTTC	0.408000													13	37					0.000151284	0.000333416	0.001855	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5239830	5239830	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:5239830G>A	ENST00000274181.7	+	16	2453	c.2315G>A	c.(2314-2316)cGg>cAg	p.R772Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	772	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R772Q(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCTGGAGCCCGGAGTATCCGC	0.473000													32	243					0	0	0.002445	0	0
SPAM1	6677	broad.mit.edu	37	7	123593677	123593677	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:123593677G>C	ENST00000340011.5	+	3	410	c.53G>C	c.(52-54)aGt>aCt	p.S18T	SPAM1_ENST00000439500.1_Missense_Mutation_p.S18T|SPAM1_ENST00000223028.7_Missense_Mutation_p.S18T|SPAM1_ENST00000402183.2_Missense_Mutation_p.S18T|SPAM1_ENST00000460182.1_Missense_Mutation_p.S18T	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	18					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.S18T(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GTTAAATCAAGTGGAGTATCC	0.373000													8	75					0	0	0.000673	0	0
LAMA2	3908	broad.mit.edu	37	6	129601234	129601234	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:129601234A>T	ENST00000421865.2	+	18	2528	c.2479A>T	c.(2479-2481)Agt>Tgt	p.S827C		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	827	Laminin EGF-like 7.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S827C(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTAGACCGGAGTCTTGGATT	0.443000													46	46					0	0	0.003610	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021718	51021718	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:51021718C>T	ENST00000599957.1	-	3	1449	c.1252G>A	c.(1252-1254)Gac>Aac	p.D418N	LRRC4B_ENST00000389201.3_Missense_Mutation_p.D418N			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	418	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane		p.D418N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGCGTGCCGTCATGCAGGACG	0.647000													22	11					0	0	0.002780	0	0
LAMB2	3913	broad.mit.edu	37	3	49159605	49159605	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:49159605C>A	ENST00000418109.1	-	29	4936	c.4772G>T	c.(4771-4773)cGg>cTg	p.R1591L	LAMB2_ENST00000305544.4_Missense_Mutation_p.R1591L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1591	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R1591L(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCTTGCCCGCCGTGCATCCTG	0.617000													26	18					5.77227e-19	1.83034e-18	0.001512	1	0
LYZL2	119180	broad.mit.edu	37	10	30915125	30915125	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:30915125G>T	ENST00000375318.2	-	3	401	c.345C>A	c.(343-345)agC>agA	p.S115R		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	69					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.S115R(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CGTAGTCGATGCTGCCGTCAT	0.587000													45	72					2.40228e-13	6.81742e-13	0.003214	1	0
EDIL3	10085	broad.mit.edu	37	5	83680180	83680180	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:83680180C>A	ENST00000296591.5	-	1	431	c.13G>T	c.(13-15)Gta>Tta	p.V5L	EDIL3_ENST00000380138.3_Missense_Mutation_p.V5L	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	5					cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.V5L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CAGACGGCTACCGAGCGCTTC	0.687000													31	38					2.04263e-09	5.22427e-09	0.004289	1	0
POU6F1	5463	broad.mit.edu	37	12	51589813	51589813	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:51589813G>A	ENST00000389243.4	-	8	1128	c.189C>T	c.(187-189)ccC>ccT	p.P63P	POU6F1_ENST00000550824.1_Silent_p.P63P|POU6F1_ENST00000333640.10_Silent_p.P63P			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	63	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.P63P(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GTGGAGGCAGGGGGCTGCTAG	0.687000													15	16					0	0	0.006122	0	0
ATG2B	55102	broad.mit.edu	37	14	96756080	96756080	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr14:96756080C>A	ENST00000359933.4	-	41	6812	c.5919G>T	c.(5917-5919)aaG>aaT	p.K1973N		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1973								p.K1973N(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ACCTTTTGGTCTTCTTGGGCT	0.473000													48	64					3.2641e-12	8.99619e-12	0.003214	1	0
TMC3	342125	broad.mit.edu	37	15	81633780	81633780	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:81633780C>T	ENST00000558726.1	-	16	1933	c.1798G>A	c.(1798-1800)Gct>Act	p.A600T	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.A599T			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	599						integral to membrane		p.A599T(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GTCAGCACAGCCCAGCTTCTC	0.473000													6	4					0	0	0.001168	0	0
RYR3	6263	broad.mit.edu	37	15	33927929	33927929	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:33927929G>T	ENST00000389232.4	+	26	3360	c.3290G>T	c.(3289-3291)gGa>gTa	p.G1097V	RYR3_ENST00000415757.3_Missense_Mutation_p.G1097V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1097	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G1097V(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGACTGGAGGAGACATGCGA	0.522000													19	10					1.00905e-13	2.87671e-13	0.001216	1	0
RYR2	6262	broad.mit.edu	37	1	237947924	237947924	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:237947924C>A	ENST00000366574.2	+	90	13229	c.12912C>A	c.(12910-12912)ggC>ggA	p.G4304G	RYR2_ENST00000360064.6_Silent_p.G4310G|RYR2_ENST00000542537.1_Silent_p.G4288G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4304					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G4302G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTCAGAGGCTTTTTCCGCA	0.488000													37	28					2.05212e-20	6.66001e-20	0.005524	1	0
PMFBP1	83449	broad.mit.edu	37	16	72162647	72162647	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:72162647C>A	ENST00000537465.1	-	14	2170	c.2012G>T	c.(2011-2013)cGa>cTa	p.R671L	PMFBP1_ENST00000237353.10_Missense_Mutation_p.R666L|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R521L			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	671								p.R666L(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TAGCTCTGCTCGGAGATTCTC	0.408000													11	39					0.000673444	0.00144825	0.000673	1	0
SLC6A19	340024	broad.mit.edu	37	5	1217012	1217012	+	Silent	SNP	C	C	T	rs145782869		TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:1217012C>T	ENST00000304460.10	+	8	1181	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	375					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.Y375Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCGCGGCCTACGCGCAGCTGG	0.632000													121	93					0	0	0.003610	0	0
SMYD1	150572	broad.mit.edu	37	2	88405948	88405948	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:88405948C>T	ENST00000419482.2	+	8	1171	c.1086C>T	c.(1084-1086)tcC>tcT	p.S362S	SMYD1_ENST00000444564.2_Silent_p.S349S|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.S362S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGGTCCTTTCCTACCTCCAGG	0.527000													20	56					0	0	0.001523	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328761	6328761	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:6328761C>T	ENST00000344545.5	+	1	413	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	TPD52L3_ENST00000381428.1_Missense_Mutation_p.R56C|TPD52L3_ENST00000314556.3_Missense_Mutation_p.R56C	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	56							protein binding	p.R56C(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		CAAAGAGAGACGCTGTGGGGA	0.512000													13	28					0	0	0.001368	0	0
ZNF142	7701	broad.mit.edu	37	2	219508601	219508601	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:219508601C>T	ENST00000411696.2	-	7	3417	c.2638G>A	c.(2638-2640)Ggc>Agc	p.G880S	ZNF142_ENST00000449707.1_Missense_Mutation_p.G880S			P52746	ZN142_HUMAN	zinc finger protein 142	880					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G717S(1)|p.G880S(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTGCTGAGGCCGCGTTGTTGC	0.617000													65	55					0	0	0.003610	0	0
TEX35	84066	broad.mit.edu	37	1	178489999	178489999	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:178489999G>A	ENST00000367641.3	+	7	592	c.533G>A	c.(532-534)gGg>gAg	p.G178E	TEX35_ENST00000258298.2_Missense_Mutation_p.G102E|TEX35_ENST00000367639.1_Missense_Mutation_p.G186E|TEX35_ENST00000367643.3_Missense_Mutation_p.G178E|TEX35_ENST00000319416.2_Missense_Mutation_p.G178E|TEX35_ENST00000367642.3_3'UTR					testis expressed 35									p.G178E(2)									CATCACTGTGGGACCTGCTGC	0.577000													14	20					0	0	0.003163	0	0
C17orf59	54785	broad.mit.edu	37	17	8092892	8092892	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:8092892C>A	ENST00000389017.4	-	1	672	c.567G>T	c.(565-567)gcG>gcT	p.A189A		NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	189								p.A55A(1)|p.A189A(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6						GTCCGCCGCCCGCGCCGGACT	0.706000													8	3					0.000157383	0.000345632	0.003080	1	0
ST18	9705	broad.mit.edu	37	8	53071670	53071670	+	Splice_Site	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:53071670C>T	ENST00000276480.7	-	15	2278		c.e15-1			NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AAATGCTTTGCTGTTGAAGAG	0.398000													15	48					0	0	0.004007	0	0
SLC4A9	83697	broad.mit.edu	37	5	139740437	139740437	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:139740437C>A	ENST00000230993.6	+	2	378	c.343C>A	c.(343-345)Cgg>Agg	p.R115R	SLC4A9_ENST00000432095.2_Silent_p.R91R|SLC4A9_ENST00000506545.1_Silent_p.R91R|SLC4A9_ENST00000506757.2_Silent_p.R91R|SLC4A9_ENST00000507527.1_Silent_p.R115R	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	115						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.R115R(2)|p.R89R(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCAGGCCGGTGGAGTGC	0.617000													9	12					3.07112e-06	7.09554e-06	0.000978	1	0
GPR98	84059	broad.mit.edu	37	5	89933562	89933562	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:89933562G>T	ENST00000405460.2	+	11	2133	c.2037G>T	c.(2035-2037)cgG>cgT	p.R679R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	679					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	p.R679R(1)		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)		CCTTACATCGGGATGGAACTG	0.373000													10	34					3.86212e-05	8.60325e-05	0.000673	1	0
EDAR	10913	broad.mit.edu	37	2	109527319	109527319	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:109527319G>T	ENST00000409271.1	-	8	1182	c.739C>A	c.(739-741)Cct>Act	p.P247T	EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Missense_Mutation_p.P247T			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGGGAGAGAGGAGGGAGTGAG	0.657000													9	43					1.12685e-05	2.55132e-05	0.004482	1	0
IFLTD1	160492	broad.mit.edu	37	12	25706005	25706005	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:25706005G>T	ENST00000282881.6	-	1	173	c.24C>A	c.(22-24)aaC>aaA	p.N8K	IFLTD1_ENST00000458174.2_5'UTR|IFLTD1_ENST00000413632.2_5'UTR|IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000539744.1_Intron	NM_152590.3	NP_689803.2	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	8						intermediate filament	structural molecule activity	p.N8K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GACCTCACCTGTTAATCCAAC	0.373000													125	42					1.28113e-61	4.76778e-61	0.003610	1	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567503	45567503	+	RNA	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:45567503T>C	ENST00000256692.5	-	0	1182					NR_037144.1													p.T216A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AATGCTTCTGTGGGAATGCCA	0.423000													107	128					0	0	0.003610	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885797	88885797	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:88885797G>T	ENST00000319675.3	-	1	499	c.403C>A	c.(403-405)Ctg>Atg	p.L135M		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	135								p.L135M(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGTGATTCAGTGAGGCCCAG	0.557000													24	51					1.10923e-09	2.86648e-09	0.002780	1	0
DNM1P46	196968	broad.mit.edu	37	15	100332193	100332193	+	RNA	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:100332193G>A	ENST00000341853.1	-	0	1998					NR_003260.1																						TGCTGCCAGCGCATGGCTCAC	0.642000													7	13					0	0	0.001984	0	0
EDARADD	128178	broad.mit.edu	37	1	236645688	236645688	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:236645688G>T	ENST00000359362.5	+	6	571	c.357G>T	c.(355-357)ctG>ctT	p.L119L	EDARADD_ENST00000334232.4_Silent_p.L129L	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	129					cell differentiation|signal transduction	cytoplasm		p.L129L(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGATAAAGCTGGATCCGTGTC	0.502000													35	40					2.1956e-27	7.47707e-27	0.004289	1	0
REXO4	57109	broad.mit.edu	37	9	136277519	136277519	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:136277519C>A	ENST00000371942.3	-	4	1009	c.810G>T	c.(808-810)caG>caT	p.Q270H	REXO4_ENST00000478037.1_5'UTR|REXO4_ENST00000371935.2_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	270	Exonuclease.					nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity	p.Q270H(1)		kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		ACTTCCCATACTGGTTCACGA	0.577000													210	118					2.39235e-93	9.03859e-93	0.003610	1	0
KIAA1161	57462	broad.mit.edu	37	9	34372354	34372354	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:34372354C>A	ENST00000297625.7	-	2	711	c.486G>T	c.(484-486)tgG>tgT	p.W162C		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	196					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	p.W162C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GGCGGATGGGCCAGTGTTGCG	0.701000													10	3					2.17888e-05	4.88871e-05	0.000443	1	0
KIF4B	285643	broad.mit.edu	37	5	154395071	154395071	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:154395071A>T	ENST00000435029.4	+	1	1812	c.1652A>T	c.(1651-1653)cAg>cTg	p.Q551L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	551					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.Q551L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACCAACTACAGCCCATTCAG	0.408000													25	33					0	0	0.003954	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518026	84518026	+	RNA	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:84518026G>A	ENST00000331369.5	+	0	220																											AGCCGTGGTGGCGTAAGCTGT	0.517000													14	53					0	0	0.002450	0	0
PDZD8	118987	broad.mit.edu	37	10	119044270	119044270	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:119044270G>A	ENST00000334464.5	-	5	2213	c.1974C>T	c.(1972-1974)gcC>gcT	p.A658A	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	658					intracellular signal transduction		metal ion binding	p.A658A(1)		kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TGACATCTTTGGCCACTTCTT	0.418000													33	40					0	0	0.002445	0	0
HTR1A	3350	broad.mit.edu	37	5	63256774	63256774	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:63256774G>A	ENST00000323865.3	-	1	1006	c.773C>T	c.(772-774)tCg>tTg	p.S258L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	258					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.S258L(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCTGCTCCCCGACTCTCCATT	0.657000													18	44					0	0	0.000958	0	0
RRP1B	23076	broad.mit.edu	37	21	45107884	45107884	+	Silent	SNP	T	T	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr21:45107884T>G	ENST00000340648.4	+	13	1746	c.1629T>G	c.(1627-1629)ccT>ccG	p.P543P		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	543					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	p.P543P(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CGGCCTGGCCTCCATTGCAGC	0.647000													17	13					0	0	0.001523	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497409	1497409	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:1497409G>T	ENST00000421627.2	+	2	684	c.550G>T	c.(550-552)Gac>Tac	p.D184Y		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	263					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.D206Y(1)|p.D228Y(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CGGCCGGGCGGACGACCACCA	0.667000													5	2					0.000602214	0.00130183	0.000602	1	0
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555		TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:46279830G>A	ENST00000372004.3	+	20	3960	c.3744G>A	c.(3742-3744)caG>caA	p.Q1248Q	NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547000													6	66					0	0	0.001168	0	0
CD1C	911	broad.mit.edu	37	1	158262417	158262417	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:158262417C>A	ENST00000368170.3	+	4	921	c.642C>A	c.(640-642)ccC>ccA	p.P214P		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	214	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.P214P(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCAGTCGCCCCAGCCTTGGGT	0.527000													28	182					8.24728e-16	2.45836e-15	0.004656	1	0
ITGAD	3681	broad.mit.edu	37	16	31427890	31427890	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:31427890G>T	ENST00000389202.2	+	20	2471	c.2422G>T	c.(2422-2424)Ggt>Tgt	p.G808C		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	808					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G808F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTGGAACGCAGGTGAGGATTC	0.612000													40	50					2.2871e-25	7.6834e-25	0.001706	1	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170069	20170069	+	RNA	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:20170069C>T	ENST00000338912.5	-	0	202																		p.G68D(1)|p.G68A(1)									GCACACCAATCCCATCCACTC	0.557000													52	89					0	0	0.003610	0	0
SLAMF8	56833	broad.mit.edu	37	1	159805027	159805027	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:159805027C>A	ENST00000289707.5	+	5	984	c.835C>A	c.(835-837)Ccc>Acc	p.P279T	C1orf204_ENST00000368102.1_3'UTR|SLAMF8_ENST00000471286.1_Intron|SLAMF8_ENST00000368104.4_Missense_Mutation_p.P170T	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	279						integral to membrane		p.P279T(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GACAGAGAACCCCCTTGTGCA	0.493000													16	174					0.000566183	0.00123251	0.004990	1	0
NEB	4703	broad.mit.edu	37	2	152554106	152554106	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:152554106C>T	ENST00000427231.2	-	14	1411	c.1209G>A	c.(1207-1209)gaG>gaA	p.E403E	NEB_ENST00000603639.1_Silent_p.E403E|NEB_ENST00000172853.10_Silent_p.E403E|NEB_ENST00000409198.1_Silent_p.E403E|NEB_ENST00000397345.3_Silent_p.E403E|NEB_ENST00000604864.1_Silent_p.E403E	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	403					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	p.E403E(2)		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)		ATTTGGGGGTCTCGCAGTAAT	0.348000													26	112					0	0	0.001786	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419871	5419871	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr18:5419871C>A	ENST00000341928.2	-	12	1685	c.1345G>T	c.(1345-1347)Ggt>Tgt	p.G449C	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G467C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G467C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G467C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G449C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	449	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.G449C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGGCCAGTACCAACCTCTGCA	0.428000													45	41					6.08268e-21	1.98445e-20	0.003610	1	0
ZNF467	168544	broad.mit.edu	37	7	149463300	149463300	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:149463300C>A	ENST00000302017.3	-	5	704	c.291G>T	c.(289-291)aaG>aaT	p.K97N	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K97N(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTCCTCCACCTTCACCTTCC	0.537000													43	57					2.0833e-19	6.67408e-19	0.003610	1	0
RUNDC1	146923	broad.mit.edu	37	17	41142355	41142355	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:41142355A>G	ENST00000361677.1	+	4	890	c.878A>G	c.(877-879)cAg>cGg	p.Q293R		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	293								p.Q293R(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AGCCCCTTGCAGACAGGTGGT	0.463000													58	83					0	0	0.003610	0	0
RABEP2	79874	broad.mit.edu	37	16	28920082	28920082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:28920082C>A	ENST00000358201.4	-	8	1681	c.1093G>T	c.(1093-1095)Gag>Tag	p.E365*	RABEP2_ENST00000544477.1_Nonsense_Mutation_p.E294*|RABEP2_ENST00000357573.6_Nonsense_Mutation_p.E333*	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	365					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	p.E365*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GTGACCAGCTCCGCCTATGGA	0.582000													55	58					7.91745e-34	2.81988e-33	0.003610	1	0
SYCP2L	221711	broad.mit.edu	37	6	10928648	10928648	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:10928648C>A	ENST00000283141.6	+	18	1749	c.1453C>A	c.(1453-1455)Cct>Act	p.P485T	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	485						nucleus		p.P485T(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			tcagccggtccctccgttcgg	0.468000													18	44					7.07596e-05	0.000157061	0.006122	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84608134	84608134	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:84608134G>A	ENST00000344803.2	+	4	2796	c.2749G>A	c.(2749-2751)Ggc>Agc	p.G917S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.G917S(2)									GATGCTGTGGGGCCTTCCCCT	0.458000													33	26					0	0	0.003271	0	0
NPIPA1	9284	broad.mit.edu	37	16	15045798	15045798	+	Silent	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:15045798A>G	ENST00000328085.6	+	8	969	c.969A>G	c.(967-969)tcA>tcG	p.S323S	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2			nuclear pore complex interacting protein family, member A1									p.S323S(1)									CTCCACCCTCAGTGGATGATA	0.512000													21	117					0	0	0.001512	0	0
GDF7	151449	broad.mit.edu	37	2	20867364	20867364	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:20867364C>T	ENST00000272224.3	+	1	941	c.365C>T	c.(364-366)aCc>aTc	p.T122I		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	122					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.T122I(1)		breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACACGATCACCGGCTTCACA	0.692000													6	7					0	0	0.004482	0	0
CAPN1	823	broad.mit.edu	37	11	64950964	64950964	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:64950964G>T	ENST00000527323.1	+	3	597	c.357G>T	c.(355-357)gcG>gcT	p.A119A	CAPN1_ENST00000279247.6_Silent_p.A119A|CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000533820.1_Silent_p.A119A|CAPN1_ENST00000524773.1_Silent_p.A119A|CAPN1_ENST00000533129.1_Silent_p.A119A			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	119	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	p.A119A(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GGCTCTTGGCGGCCATCGCCT	0.637000													10	13					6.42651e-13	1.80727e-12	0.000978	1	0
DMD	1756	broad.mit.edu	37	X	32472826	32472826	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:32472826C>A	ENST00000357033.4	-	26	3762	c.3556G>T	c.(3556-3558)Gaa>Taa	p.E1186*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1182*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1186					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1186*(1)|p.E1181*(1)|p.E1182*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTTTATATTCAAAATCTCTC	0.338000													38	49					1.00001e-27	3.42427e-27	0.002222	1	0
FCHO1	23149	broad.mit.edu	37	19	17893866	17893866	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:17893866C>A	ENST00000594202.1	+	24	2257	c.1978C>A	c.(1978-1980)Cct>Act	p.P660T	FCHO1_ENST00000539407.1_Missense_Mutation_p.P660T|FCHO1_ENST00000595033.1_Missense_Mutation_p.P610T|FCHO1_ENST00000596951.1_Missense_Mutation_p.P660T|FCHO1_ENST00000252771.7_Missense_Mutation_p.P660T|FCHO1_ENST00000597512.1_Missense_Mutation_p.P667T|FCHO1_ENST00000596536.1_Missense_Mutation_p.P660T|FCHO1_ENST00000389133.4_Missense_Mutation_p.P660T|FCHO1_ENST00000600676.1_Missense_Mutation_p.P660T	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	660								p.P660T(1)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CATGACCTTCCCTGCTGGCAT	0.612000													14	6					6.31663e-08	1.53052e-07	0.003163	1	0
OBSCN	84033	broad.mit.edu	37	1	228479688	228479688	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:228479688G>T	ENST00000570156.2	+	44	11790	c.11716G>T	c.(11716-11718)Gcc>Tcc	p.A3906S	OBSCN_ENST00000359599.6_Missense_Mutation_p.A2324S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3477S|OBSCN_ENST00000422127.1_Missense_Mutation_p.A3477S|OBSCN_ENST00000366709.4_Missense_Mutation_p.A596S|OBSCN_ENST00000366707.4_Missense_Mutation_p.A596S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2944	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.A3661S(1)|p.A3760S(1)|p.A3531S(1)|p.A3477S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGCAAGGTGGCCCCTGTGGA	0.602000													22	24					3.62473e-10	9.42582e-10	0.001882	1	0
PTPRU	10076	broad.mit.edu	37	1	29618423	29618423	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:29618423G>T	ENST00000356870.3	+	15	2471	c.2361G>T	c.(2359-2361)caG>caT	p.Q787H	PTPRU_ENST00000460170.2_Missense_Mutation_p.Q787H|PTPRU_ENST00000428026.2_Missense_Mutation_p.Q787H|PTPRU_ENST00000345512.3_Missense_Mutation_p.Q797H|PTPRU_ENST00000323874.8_Missense_Mutation_p.Q787H|PTPRU_ENST00000373779.3_Missense_Mutation_p.Q787H|PTPRU_ENST00000415600.2_3'UTR	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	797	Mediates interaction with CTNNB1 (By similarity).				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q787H(2)|p.Q797H(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACTACCGCCAGGAGAAGACAC	0.622000													9	16					1.76689e-08	4.38373e-08	0.000443	1	0
SHE	126669	broad.mit.edu	37	1	154474139	154474139	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:154474139T>C	ENST00000304760.2	-	1	450	c.364A>G	c.(364-366)Aac>Gac	p.N122D		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	122								p.N122D(1)		breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCCCGGGAGTTTTTGCGGCCC	0.687000													5	54					0	0	0.004482	0	0
OR4D10	390197	broad.mit.edu	37	11	59245288	59245288	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:59245288C>A	ENST00000530162.1	+	1	443	c.386C>A	c.(385-387)cCc>cAc	p.P129H		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P127H(1)|p.P129H(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCTCCAAGCCCCTGCACTAT	0.502000													39	44					9.8876e-21	3.21735e-20	0.004878	1	0
ZNF812	729648	broad.mit.edu	37	19	9801313	9801313	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:9801313G>T	ENST00000457674.2	-	5	1384	c.866C>A	c.(865-867)tCa>tAa	p.S289*	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S289*(1)		ovary(1)	1						AAGGTGAGTTGACCTAGTGAA	0.398000													40	30					1.41504e-22	4.62865e-22	0.002852	1	0
RAB3GAP2	25782	broad.mit.edu	37	1	220332761	220332761	+	Silent	SNP	A	A	T	rs111791643		TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:220332761A>T	ENST00000358951.2	-	29	3344	c.3228T>A	c.(3226-3228)gtT>gtA	p.V1076V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1076					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.V1076V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTGATTTTCCAACCTAAAATA	0.269000													6	42					0	0	0.001168	0	0
PLXNA4	91584	broad.mit.edu	37	7	131853280	131853280	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:131853280G>T	ENST00000359827.3	-	22	5031	c.4069C>A	c.(4069-4071)Cag>Aag	p.Q1357K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Q1357K			Q9HCM2	PLXA4_HUMAN	plexin A4	1357						integral to membrane|intracellular|plasma membrane		p.Q1357K(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGATGAGCTGGGCGAAGAGC	0.602000													11	24					2.80697e-09	7.12055e-09	0.000978	1	0
GDPD4	220032	broad.mit.edu	37	11	76982254	76982254	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:76982254G>T	ENST00000315938.4	-	6	571	c.321C>A	c.(319-321)taC>taA	p.Y107*	GDPD4_ENST00000376217.2_Nonsense_Mutation_p.Y107*	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	107					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.Y107*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CCAGGTGCACGTAGGGAGCAA	0.488000													30	57					3.80469e-20	1.22837e-19	0.001786	1	0
DCDC1	341019	broad.mit.edu	37	11	31112989	31112989	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:31112989C>T	ENST00000597505.1	-	15	2187	c.2188G>A	c.(2188-2190)Gct>Act	p.A730T	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.A349T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCCTCAGCAGCCTTGACTCTG	0.398000													5	4					0	0	0.003080	0	0
LY6G6D	58530	broad.mit.edu	37	6	31685371	31685371	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:31685371G>C	ENST00000503322.1	+	6	942	c.939G>C	c.(937-939)ttG>ttC	p.L313F	LY6G6D_ENST00000375825.3_Missense_Mutation_p.L64F|LY6G6F_ENST00000556581.1_Missense_Mutation_p.L313F														p.L64F(1)									CAGTGACCTTGATTCACCAAC	0.557000													126	55					0	0	0.003610	0	0
ACSL1	2180	broad.mit.edu	37	4	185709868	185709868	+	Silent	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:185709868T>C	ENST00000515030.1	-	3	538	c.213A>G	c.(211-213)cgA>cgG	p.R71R	ACSL1_ENST00000281455.2_Silent_p.R71R|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000504342.1_Silent_p.R71R|ACSL1_ENST00000507295.1_Silent_p.R71R|ACSL1_ENST00000513317.1_Silent_p.R71R|ACSL1_ENST00000454703.2_5'UTR|ACSL1_ENST00000504900.1_Silent_p.R71R			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	71					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.R71R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GTGCGGATCTTCGTGCACCAC	0.443000													32	56					0	0	0.002096	0	0
KIAA0556	23247	broad.mit.edu	37	16	27720169	27720169	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:27720169G>A	ENST00000261588.4	+	13	1552	c.1533G>A	c.(1531-1533)tcG>tcA	p.S511S	CTD-2049O4.1_ENST00000563052.1_RNA|KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA|CTD-2049O4.1_ENST00000568831.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	511								p.S511S(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TTTATGTGTCGCCCCACGATG	0.557000													25	31					0	0	0.003330	0	0
DMPK	1760	broad.mit.edu	37	19	46282585	46282585	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:46282585C>A	ENST00000600757.1	-	3	1086	c.399G>T	c.(397-399)ttG>ttT	p.L133F	DMPK_ENST00000343373.4_Missense_Mutation_p.L133F|DMPK_ENST00000458663.2_Missense_Mutation_p.L123F|DMPK_ENST00000354227.5_Missense_Mutation_p.L123F|DMPK_ENST00000447742.2_Missense_Mutation_p.L123F|DMPK_ENST00000291270.4_Missense_Mutation_p.L123F			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	133	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.L133F(1)|p.L123F(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCCCATTCACCAACACGTCCC	0.662000													65	30					7.73544e-29	2.66348e-28	0.003610	1	0
SORCS1	114815	broad.mit.edu	37	10	108439445	108439445	+	Nonsense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:108439445G>T	ENST00000263054.6	-	11	1615	c.1608C>A	c.(1606-1608)taC>taA	p.Y536*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.Y536*|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.Y71*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	536						integral to membrane	neuropeptide receptor activity|protein binding	p.Y536*(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCCTGATGTGTAGGGATTCT	0.418000													14	18					4.7546e-09	1.19878e-08	0.004007	1	0
TMEM182	130827	broad.mit.edu	37	2	103380886	103380886	+	Splice_Site	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:103380886A>T	ENST00000412401.2	+	3	536	c.331_splice	c.e3+1	p.I111_splice	TMEM182_ENST00000409528.1_Splice_Site_p.I15_splice|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Splice_Site_p.I68_splice	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	111						integral to membrane		p.I111F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTCTGCAGTTAGTAAGTACCC	0.448000													23	78					0	0	0.003330	0	0
SEC16A	9919	broad.mit.edu	37	9	139370619	139370619	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:139370619C>A	ENST00000313050.7	-	1	1522	c.1449G>T	c.(1447-1449)ccG>ccT	p.P483P	SEC16A_ENST00000431893.2_Silent_p.P305P|SEC16A_ENST00000371706.3_Silent_p.P305P|SEC16A_ENST00000290037.6_Silent_p.P305P	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	305					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.P483P(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACTGGTCACTCGGGGAGGAAG	0.552000													6	38					8.12818e-05	0.000180095	0.001984	1	0
JTB	10899	broad.mit.edu	37	1	153949471	153949471	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:153949471C>A	ENST00000271843.4	-	2	537	c.102G>T	c.(100-102)gtG>gtT	p.V34V	JTB_ENST00000368589.1_5'UTR|JTB_ENST00000471173.1_Intron|JTB_ENST00000356648.1_5'UTR	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	34					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	p.V34V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTCTTCCTGCACGGGAGCCT	0.532000													43	345					4.01344e-20	1.29241e-19	0.003610	1	0
ZNF33B	7582	broad.mit.edu	37	10	43089515	43089515	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:43089515C>A	ENST00000359467.3	-	5	997	c.883G>T	c.(883-885)Ggg>Tgg	p.G295W	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	295						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G295W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACAGGTACCCCATCATGTTTA	0.403000													20	84					3.62473e-10	9.42582e-10	0.001882	1	0
GABRA6	2559	broad.mit.edu	37	5	161119185	161119185	+	Silent	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:161119185T>A	ENST00000523217.1	+	8	1277	c.1035T>A	c.(1033-1035)ccT>ccA	p.P345P	GABRA6_ENST00000274545.5_Silent_p.P355P	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	355					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.P355P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTACTGAACCTTTGGAAGCTG	0.413000										TCGA Ovarian(5;0.080)			38	47					0	0	0.001485	0	0
PYGM	5837	broad.mit.edu	37	11	64521067	64521067	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:64521067C>A	ENST00000164139.3	-	11	1725	c.1327G>T	c.(1327-1329)Gca>Tca	p.A443S	PYGM_ENST00000377432.3_Missense_Mutation_p.A355S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	443					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.M442_A443>IS(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CACAGGTGTGCCATGTTGATG	0.667000													6	12					4.096e-09	1.03693e-08	0.001168	1	0
HECTD1	25831	broad.mit.edu	37	14	31604167	31604167	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr14:31604167C>A	ENST00000399332.1	-	22	3977	c.3489G>T	c.(3487-3489)ctG>ctT	p.L1163L	HECTD1_ENST00000553700.1_Silent_p.L1163L	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1163					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.L1163L(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCCAATTTCTCAGTGCAGACC	0.448000													20	114					8.28177e-16	2.46274e-15	0.000958	1	0
MIR1324	100302212	broad.mit.edu	37	3	75679986	75679986	+	RNA	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:75679986C>G	ENST00000408868.1	+	0	73					NR_031714.1																						AGACAGAATTCTATGCACTTT	0.512000													8	101					0	0	0.001368	0	0
KIF1B	23095	broad.mit.edu	37	1	10327560	10327560	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:10327560G>A	ENST00000377086.1	+	6	754	c.552G>A	c.(550-552)ttG>ttA	p.L184L	KIF1B_ENST00000377083.1_Silent_p.L184L|KIF1B_ENST00000377093.4_Silent_p.L184L|KIF1B_ENST00000263934.6_Silent_p.L184L|KIF1B_ENST00000377081.1_Silent_p.L184L			O60333	KIF1B_HUMAN	kinesin family member 1B	184	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.L184L(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TGTCCAAGTTGGCAGTTACTT	0.458000													29	33					0	0	0.002836	0	0
IL13	3596	broad.mit.edu	37	5	131993990	131993990	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:131993990C>T	ENST00000304506.3	+	1	126	c.112C>T	c.(112-114)Cct>Tct	p.P38S	AC004041.2_ENST00000435042.1_RNA|IL13_ENST00000468334.1_Intron	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	38					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity	p.P38S(1)		large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCCTGTGCCTCCCTCTAC	0.592000													15	14					0	0	0.002450	0	0
LCE1E	353135	broad.mit.edu	37	1	152759848	152759848	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:152759848C>T	ENST00000368770.3	+	2	126	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	LCE1E_ENST00000368771.1_Missense_Mutation_p.P25S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	25	Cys-rich.				keratinization			p.P25S(1)		lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcccaagtgTCCCACCCCCAA	0.632000													55	265					0	0	0.003610	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218557	208218557	+	Splice_Site	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:208218557T>A	ENST00000367033.3	-	19	4253		c.e19-2			NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2						axon guidance	integral to membrane|intracellular|plasma membrane		p.?(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTTTTTGCCCTGTAGAGAATA	0.502000													33	93					0	0	0.003271	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283212	69283212	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:69283212G>T	ENST00000338352.2	+	1	872	c.838G>T	c.(838-840)Gcc>Tcc	p.A280S		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	280								p.A280S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GGCCGGCGCCGCCGGGGGCGT	0.647000													5	3					0.000602214	0.00130183	0.000602	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44807180	44807180	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:44807180G>A	ENST00000309315.4	+	19	2844	c.2721G>A	c.(2719-2721)acG>acA	p.T907T	ZMIZ2_ENST00000441627.1_Silent_p.T907T|ZMIZ2_ENST00000433667.1_Silent_p.T875T|ZMIZ2_ENST00000265346.7_Silent_p.T881T|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000413916.1_Silent_p.T849T	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	907					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.T907T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACCTCCCTACGAACAACAATG	0.552000													15	44					0	0	0.001216	0	0
NAE1	8883	broad.mit.edu	37	16	66837013	66837013	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:66837013C>A	ENST00000379463.2	-	21	1678	c.1486G>T	c.(1486-1488)Gct>Tct	p.A496S	NAE1_ENST00000394074.2_Missense_Mutation_p.A413S|NAE1_ENST00000290810.3_Missense_Mutation_p.A502S|NAE1_ENST00000359087.4_Missense_Mutation_p.A505S	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	502					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	p.A502S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	ACCTCTTGAGCAGCAGCTCCT	0.318000													17	16					4.7546e-09	1.19878e-08	0.004007	1	0
SGIP1	84251	broad.mit.edu	37	1	67145433	67145433	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:67145433C>A	ENST00000371037.4	+	14	889	c.812C>A	c.(811-813)cCa>cAa	p.P271Q	SGIP1_ENST00000371035.3_Missense_Mutation_p.P228Q|SGIP1_ENST00000371036.3_Missense_Mutation_p.P238Q|SGIP1_ENST00000371039.1_Missense_Mutation_p.P239Q|SGIP1_ENST00000237247.6_Missense_Mutation_p.P275Q	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	271	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.P239Q(1)|p.P271Q(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACAATTGGACCAGGTACGCTT	0.468000													25	49					3.08376e-08	7.59033e-08	0.003330	1	0
RBAK	57786	broad.mit.edu	37	7	5103959	5103959	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:5103959G>T	ENST00000396912.1	+	5	1391	c.872G>T	c.(871-873)tGt>tTt	p.C291F	RBAK_ENST00000353796.3_Missense_Mutation_p.C291F|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	291					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.C291F(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CCTTATGAATGTAATGTATGT	0.413000													16	43					8.60227e-14	2.45808e-13	0.004007	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130215718	130215718	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:130215718G>T	ENST00000276211.5	+	2	424	c.79G>T	c.(79-81)Gcc>Tcc	p.A27S	ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	27					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.A27S(3)		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						GTTGTTGTCCGCCTTCATTTT	0.532000													50	48					1.32667e-27	4.53036e-27	0.003610	1	0
KHDRBS1	10657	broad.mit.edu	37	1	32503442	32503442	+	Silent	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:32503442T>A	ENST00000327300.7	+	6	1079	c.912T>A	c.(910-912)cgT>cgA	p.R304R	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Silent_p.R265R	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	304	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	p.R304R(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTAGGGGCCGTGGTGTTGGAC	0.478000													79	81					0	0	0.003610	0	0
NPAS3	64067	broad.mit.edu	37	14	34269371	34269371	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr14:34269371G>A	ENST00000346562.2	+	11	1836	c.1762G>A	c.(1762-1764)Gcg>Acg	p.A588T	NPAS3_ENST00000551492.1_Missense_Mutation_p.A625T|NPAS3_ENST00000357798.5_Missense_Mutation_p.A607T|NPAS3_ENST00000548645.1_Missense_Mutation_p.A590T|NPAS3_ENST00000356141.4_Missense_Mutation_p.A620T	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.A607T(1)|p.A620T(1)|p.A588T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCTGTCCAGCGCGTCGAGCCC	0.706000													24	16					0	0	0.003954	0	0
ROR2	4920	broad.mit.edu	37	9	94519600	94519600	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:94519600G>T	ENST00000375708.3	-	3	615	c.417C>A	c.(415-417)aaC>aaA	p.N139K	ROR2_ENST00000375715.1_5'UTR|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	139	Ig-like C2-type.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.N139K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTTCATCCCGTTGGTGGCCA	0.557000													25	122					1.42536e-11	3.85995e-11	0.004656	1	0
SMAD1	4086	broad.mit.edu	37	4	146479012	146479012	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:146479012G>T	ENST00000515385.1	+	7	1866	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	SMAD1_ENST00000394092.2_Missense_Mutation_p.G442C|SMAD1_ENST00000302085.4_Missense_Mutation_p.G442C			Q15797	SMAD1_HUMAN	SMAD family member 1	442	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	p.G442C(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					ACATCTGCACGGCCCCCTCCA	0.488000											OREG0016348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	184					1.69901e-12	4.72454e-12	0.005524	1	0
BACH1	571	broad.mit.edu	37	21	30724120	30724120	+	RNA	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr21:30724120A>T	ENST00000504298.1	+	0	166					NR_027655.1																						TAGAGCACATAGCTGCTAAGA	0.443000													11	8					0	0	0.000673	0	0
HERC2	8924	broad.mit.edu	37	15	28424305	28424305	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:28424305G>T	ENST00000261609.7	-	58	9110	c.9002C>A	c.(9001-9003)tCt>tAt	p.S3001Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3001					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S3001Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAAACTTTTAGATCCACCAGC	0.299000													74	89					9.35569e-46	3.43042e-45	0.003610	1	0
DUSP22	56940	broad.mit.edu	37	6	345854	345854	+	Splice_Site	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:345854G>T	ENST00000419235.2	+	5	267	c.188_splice	c.e5-1	p.L63_splice	DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000344450.5_Splice_Site_p.L63_splice|DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	63					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L63L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CTTTTCCCAGGACAAGACATT	0.378000													7	70					1.12685e-05	2.55132e-05	0.004482	1	0
RANBP3	8498	broad.mit.edu	37	19	5925686	5925686	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:5925686C>A	ENST00000340578.6	-	10	933	c.876G>T	c.(874-876)acG>acT	p.T292T	RANBP3_ENST00000034275.8_Silent_p.T224T|RANBP3_ENST00000591092.1_Silent_p.T219T|RANBP3_ENST00000541471.1_Silent_p.T164T|RANBP3_ENST00000439268.2_Silent_p.T287T	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	292					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	p.T292T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TTGCGGTTGGCGTGTCTGCGC	0.597000													38	26					6.45866e-13	1.81221e-12	0.001951	1	0
DNAH9	1770	broad.mit.edu	37	17	11778439	11778439	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:11778439C>A	ENST00000262442.3	+	53	10484	c.10416C>A	c.(10414-10416)ggC>ggA	p.G3472G	DNAH9_ENST00000454412.2_Silent_p.G3472G|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3472	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G3472G(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCTACAAGGCATCAAATGGA	0.512000													22	13					1.36565e-18	4.28661e-18	0.002780	1	0
DUSP27	92235	broad.mit.edu	37	1	167095706	167095706	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:167095706C>G	ENST00000361200.2	+	6	1504	c.1338C>G	c.(1336-1338)caC>caG	p.H446Q	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.H446Q|DUSP27_ENST00000443333.1_Missense_Mutation_p.H446Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	446					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.H446Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGAGCAGCCACGACATCTGGG	0.697000													3	4					0	0	0.004672	0	0
FMR1NB	158521	broad.mit.edu	37	X	147063138	147063138	+	Silent	SNP	C	C	T	rs141506256		TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:147063138C>T	ENST00000370467.3	+	1	290	c.216C>T	c.(214-216)ctC>ctT	p.L72L		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	72						integral to membrane		p.L72L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGGATGCTCATGCTCTCCA	0.587000													56	40					0	0	0.003610	0	0
TDP1	55775	broad.mit.edu	37	14	90446935	90446935	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr14:90446935C>T	ENST00000335725.4	+	8	1093	c.843C>T	c.(841-843)acC>acT	p.T281T	TDP1_ENST00000357382.3_Silent_p.T42T|TDP1_ENST00000393454.2_Silent_p.T281T|TDP1_ENST00000393452.3_Silent_p.T281T|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000555880.1_Silent_p.T281T	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	281					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	p.T281T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCATACACACCTCCAACCTCA	0.448000								Repair of DNA-protein crosslinks					29	34					0	0	0.005524	0	0
ABCB5	340273	broad.mit.edu	37	7	20762825	20762825	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:20762825C>A	ENST00000404938.2	+	21	3260	c.2608C>A	c.(2608-2610)Ctt>Att	p.L870I	ABCB5_ENST00000258738.6_Missense_Mutation_p.L425I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	425					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.L425I(1)|p.L870I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TAAGCAAGAACTTAAGCATGC	0.373000													8	36					0.00307968	0.00647723	0.003080	1	0
PPP3R1	5534	broad.mit.edu	37	2	68415760	68415760	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:68415760C>A	ENST00000234310.3	-	3	509	c.106G>T	c.(106-108)Ggt>Tgt	p.G36C	PPP3R1_ENST00000409377.1_Missense_Mutation_p.G26C|PPP3R1_ENST00000409752.1_Missense_Mutation_p.G55C	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	36	EF-hand 1.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding	p.G36C(1)		large_intestine(1)	1					Pimecrolimus(DB00337)	CTCAAAGAACCAGAATTGTCC	0.358000													18	77					3.52763e-06	8.12009e-06	0.004990	1	0
ABCB11	8647	broad.mit.edu	37	2	169851962	169851962	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:169851962G>C	ENST00000263817.6	-	7	632	c.508C>G	c.(508-510)Cag>Gag	p.Q170E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	170	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	p.Q170E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTCTGTATCTGACGAGCTGCG	0.358000													15	59					0	0	0.004990	0	0
ALG10	84920	broad.mit.edu	37	12	34177038	34177038	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:34177038G>T	ENST00000266483.2	+	2	632	c.313G>T	c.(313-315)Gtt>Ttt	p.V105F	ALG10_ENST00000538927.1_Missense_Mutation_p.V105F|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	105					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.V105F(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCTCTTCAGTGTTGGCAACTT	0.373000													12	269					1.49906e-05	3.3756e-05	0.002450	1	0
CPB2	1361	broad.mit.edu	37	13	46679112	46679112	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr13:46679112G>T	ENST00000181383.4	-	1	49	c.33C>A	c.(31-33)ccC>ccA	p.P11P	CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Silent_p.P11P	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	11					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.P11P(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		AGAGAACAATGGGTACAAGGA	0.438000													18	12					5.35267e-07	1.26731e-06	0.000958	1	0
ARHGEF1	9138	broad.mit.edu	37	19	42398702	42398702	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:42398702C>T	ENST00000599846.1	+	11	970	c.845C>T	c.(844-846)cCa>cTa	p.P282L	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.P249L|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.P297L|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.P282L|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.P264L			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	282					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.P297L(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GTTTCAGTTCCAGATTTTCGA	0.577000													59	25					0	0	0.003610	0	0
TFB1M	51106	broad.mit.edu	37	6	155619654	155619654	+	Silent	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:155619654T>C	ENST00000367166.4	-	3	406	c.351A>G	c.(349-351)gtA>gtG	p.V117V		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	p.V117V(1)		lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		AAGCCTTTTCTACCTTAAATG	0.333000													63	33					0	0	0.003610	0	0
OR8D4	338662	broad.mit.edu	37	11	123778066	123778066	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:123778066T>A	ENST00000321355.2	+	1	958	c.928T>A	c.(928-930)Tct>Act	p.S310T		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S310T(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AAGAAAAATATCTTTATCTCC	0.259000													30	6					0	0	0.001512	0	0
OR2T10	127069	broad.mit.edu	37	1	248756792	248756792	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:248756792G>C	ENST00000330500.2	-	1	308	c.278C>G	c.(277-279)tCg>tGg	p.S93W		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93W(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCAAGGACCGAGATGGTCTT	0.502000													8	4					0	0	0.000443	0	0
LEPR	3953	broad.mit.edu	37	1	66081754	66081754	+	Missense_Mutation	SNP	T	T	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:66081754T>G	ENST00000349533.6	+	15	2244	c.2059T>G	c.(2059-2061)Tgc>Ggc	p.C687G	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.C687G|LEPR_ENST00000371058.1_Missense_Mutation_p.C687G|LEPR_ENST00000371060.3_Missense_Mutation_p.C687G|LEPR_ENST00000371059.3_Missense_Mutation_p.C687G	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	687	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.C687G(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCATACTTCCTGCAATGGAAC	0.398000													10	44					0	0	0.000978	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2182168	2182168	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:2182168C>A	ENST00000397270.1	-	2	92	c.34G>T	c.(34-36)Gcg>Tcg	p.A12S	INS_ENST00000250971.3_Missense_Mutation_p.A12S|INS_ENST00000512523.1_Missense_Mutation_p.A12S|INS_ENST00000381330.4_Missense_Mutation_p.A12S|INS_ENST00000397262.1_Missense_Mutation_p.A12S	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		12					glucose metabolic process	extracellular region	hormone activity	p.A12S(2)		haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GCCAGCAGCGCCAGCAGGGGC	0.652000													12	5					0.000219431	0.000481046	0.002450	1	0
C1QC	714	broad.mit.edu	37	1	22974119	22974119	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:22974119G>A	ENST00000374639.3	+	3	699	c.581G>A	c.(580-582)gGc>gAc	p.G194D	C1QC_ENST00000374640.4_Missense_Mutation_p.G194D|C1QC_ENST00000374637.1_Missense_Mutation_p.G194D	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	194	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		p.G194D(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCTTCTGTGGCCACACGTCC	0.582000													20	44					0	0	0.000958	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A	rs145494190	by1000genomes	TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3													p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493000													4	56					0	0	0.000248	0	0
HAS1	3036	broad.mit.edu	37	19	52216704	52216704	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:52216704G>T	ENST00000540069.2	-	5	1770	c.1710C>A	c.(1708-1710)acC>acA	p.T570T	HAS1_ENST00000222115.1_Silent_p.T571T|HAS1_ENST00000601714.1_Silent_p.T578T			Q92839	HAS1_HUMAN	hyaluronan synthase 1	571					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	p.T571T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGTAGCCCCCGGTCCGCCGCC	0.711000													6	2					2.7689e-08	6.84242e-08	0.001984	1	0
SF3B2	10992	broad.mit.edu	37	11	65827286	65827286	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:65827286G>C	ENST00000528302.1	+	12	1438	c.1384G>C	c.(1384-1386)Gat>Cat	p.D462H	SF3B2_ENST00000322535.6_Missense_Mutation_p.D479H			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	479					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.D479H(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GGAGATGCACGATGTGACAGC	0.547000													12	38					0	0	0.002450	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121678889	121678889	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:121678889G>T	ENST00000393386.2	+	19	5859	c.5448G>T	c.(5446-5448)tgG>tgT	p.W1816C	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.W949C	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1816	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.W1816C(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GAATGATATGGGAACATAATG	0.393000													34	98					6.97489e-18	2.16204e-17	0.004878	1	0
LOC644669	644669	broad.mit.edu	37	18	15323341	15323341	+	RNA	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr18:15323341T>A	ENST00000455308.2	-	0	507					NR_027417.1																						TTATGGCCAATAAAAGTGGTG	0.299000													4	7					0	0	0.000248	0	0
FAT2	2196	broad.mit.edu	37	5	150943133	150943133	+	Silent	SNP	T	T	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:150943133T>G	ENST00000261800.5	-	2	3339	c.3327A>C	c.(3325-3327)gcA>gcC	p.A1109A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1109	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.A1109A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTGTCCACTGCTAATACCG	0.493000													20	19					0	0	0.001216	0	0
FCRL6	343413	broad.mit.edu	37	1	159779245	159779245	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:159779245G>T	ENST00000321935.6	+	6	765	c.679G>T	c.(679-681)Gtg>Ttg	p.V227L	FCRL6_ENST00000368106.3_Missense_Mutation_p.V220L|FCRL6_ENST00000339348.5_Missense_Mutation_p.V220L|FCRL6_ENST00000392235.3_Missense_Mutation_p.V125L			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	220	Ig-like C2-type 3.					integral to membrane		p.V220L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGACCCTGCTGTGGGGGACAT	0.617000													23	174					3.73808e-20	1.21001e-19	0.005443	1	0
SKAP1	8631	broad.mit.edu	37	17	46262150	46262150	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:46262150G>A	ENST00000336915.6	-	7	571	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	SKAP1_ENST00000584924.1_Silent_p.L168L	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	168	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	p.L168L(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TCTCTTCGCAGGTGGGGGGCC	0.537000													85	114					0	0	0.003610	0	0
SCN2A	6326	broad.mit.edu	37	2	166170469	166170469	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:166170469G>T	ENST00000357398.3	+	10	1524	c.1234G>T	c.(1234-1236)Ggc>Tgc	p.G412C	SCN2A_ENST00000283256.6_Missense_Mutation_p.G412C|SCN2A_ENST00000375427.2_Missense_Mutation_p.G412C|SCN2A_ENST00000375437.2_Missense_Mutation_p.G412C			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	412					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G412C(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CATTTTCTTGGGCTCATTCTA	0.403000													13	101					7.03913e-09	1.76404e-08	0.001368	1	0
TAF2	6873	broad.mit.edu	37	8	120807872	120807872	+	Splice_Site	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr8:120807872C>A	ENST00000378164.2	-	9	1390		c.e9-1			NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.?(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTCATCAGACCTAAGCAAAAA	0.358000													8	49					1.26484e-09	3.24835e-09	0.003080	1	0
AVL9	23080	broad.mit.edu	37	7	32598970	32598970	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:32598970T>A	ENST00000318709.4	+	10	1330	c.1109T>A	c.(1108-1110)aTt>aAt	p.I370N	AVL9_ENST00000404479.1_Missense_Mutation_p.I370N|AVL9_ENST00000409301.1_Missense_Mutation_p.I370N	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	370						integral to membrane		p.I370N(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGTCTTCCAATTACTGTACAA	0.488000													16	58					0	0	0.003163	0	0
PSD2	84249	broad.mit.edu	37	5	139193892	139193892	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:139193892G>T	ENST00000274710.3	+	4	1164	c.959G>T	c.(958-960)cGt>cTt	p.R320L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	320	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R320L(1)|p.R320H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCACGCCGTCTCTACCAC	0.652000													5	26					5.9392e-07	1.4035e-06	0.001168	1	0
FAIM2	23017	broad.mit.edu	37	12	50294991	50294991	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:50294991C>G	ENST00000320634.3	-	2	227	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	FAIM2_ENST00000550890.1_5'UTR	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	45					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane		p.E45Q(1)		endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TTCATCCCCTCCCCAGAGGTG	0.662000													10	30					0	0	0.000443	0	0
OR4N2	390429	broad.mit.edu	37	14	20295971	20295971	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr14:20295971C>A	ENST00000568211.1	+	1	364	c.364C>A	c.(364-366)Cgc>Agc	p.R122S	OR4N2_ENST00000315947.1_Missense_Mutation_p.R122S			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122S(2)|p.R122C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCCTTTGACCGCTACATCGC	0.507000													81	275					1.59627e-33	5.66904e-33	0.003610	1	0
TCF20	6942	broad.mit.edu	37	22	42606569	42606569	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr22:42606569C>A	ENST00000359486.3	-	1	4879	c.4743G>T	c.(4741-4743)agG>agT	p.R1581S	TCF20_ENST00000335626.4_Missense_Mutation_p.R1581S	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.R1581S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCCTCCTTTGCCTCTGTTTTT	0.527000													32	59					2.61193e-14	7.48072e-14	0.001786	1	0
BRINP3	339479	broad.mit.edu	37	1	190067402	190067402	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:190067402G>T	ENST00000367462.3	-	8	2278	c.2047C>A	c.(2047-2049)Ctg>Atg	p.L683M	FAM5C_ENST00000534846.1_Missense_Mutation_p.L581M|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		683						extracellular region		p.L683M(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGCAAAATCAGGTCCCGAATT	0.463000													22	70					1.50039e-11	4.03677e-11	0.001882	1	0
FCRL3	115352	broad.mit.edu	37	1	157665123	157665123	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:157665123G>T	ENST00000368184.3	-	8	1698	c.1407C>A	c.(1405-1407)gtC>gtA	p.V469V	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.V469V	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	469	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity	p.V469V(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTTACCTGTGACCCTGAGAC	0.488000													28	619					1.1904e-30	4.16809e-30	0.002836	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140768013	140768013	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:140768013G>T	ENST00000519479.1	+	1	562	c.562G>T	c.(562-564)Ggc>Tgc	p.G188C	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.G188C(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAATCAGATGGCAGTAAATA	0.438000													15	64					3.27435e-08	8.04352e-08	0.002450	1	0
ITGA1	3672	broad.mit.edu	37	5	52145249	52145249	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:52145249A>T	ENST00000282588.6	+	2	570	c.112A>T	c.(112-114)Act>Tct	p.T38S		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	38					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.T38S(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAATTCAATGACTTTCAGCGG	0.363000													29	21					0	0	0.001786	0	0
TAS2R19	259294	broad.mit.edu	37	12	11175131	11175131	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:11175131C>T	ENST00000390673.2	-	1	88	c.40G>A	c.(40-42)Gtg>Atg	p.V14M	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	14					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.V14M(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AATGCAAACACTACCAGAATT	0.383000													14	10					0	0	0.002450	0	0
MARCH1	55016	broad.mit.edu	37	4	164506983	164506983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:164506983C>T	ENST00000503008.1	-	6	1317	c.341G>A	c.(340-342)tGg>tAg	p.W114*	MARCH1_ENST00000274056.7_Nonsense_Mutation_p.W114*|MARCH1_ENST00000339875.5_Nonsense_Mutation_p.W97*|MARCH1_ENST00000514618.1_Nonsense_Mutation_p.W370*	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	114					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.W114*(1)|p.W97*(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCTCTTTATCCACTGGTGGAG	0.532000													22	94					0	0	0.003330	0	0
HRNR	388697	broad.mit.edu	37	1	152188171	152188171	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:152188171G>T	ENST00000368801.2	-	3	6009	c.5934C>A	c.(5932-5934)ggC>ggA	p.G1978G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1978					keratinization		calcium ion binding|protein binding	p.G1978G(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTCATATGGGCCACGGCTGG	0.597000													46	3122					7.93312e-07	1.86054e-06	0.002450	1	0
OR10X1	128367	broad.mit.edu	37	1	158549456	158549456	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:158549456G>T	ENST00000368150.1	-	1	233	c.234C>A	c.(232-234)ttC>ttA	p.F78L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F78_L79>LI(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTGCACTAAGGAAGAGATACA	0.498000													16	209					1.96895e-08	4.8753e-08	0.002780	1	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	109					0	0	0.000602	0	0
NUTM2D	728130	broad.mit.edu	37	10	89118066	89118066	+	Nonsense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:89118066T>A	ENST00000412718.1	+	1	590	c.44T>A	c.(43-45)tTg>tAg	p.L15*	NUTM2D_ENST00000381697.2_Nonsense_Mutation_p.L15*					NUT family member 2D									p.L15*(1)									CTGTTTCAGTTGGACTCAGGA	0.542000													40	276					0	0	0.003214	0	0
PALD1	27143	broad.mit.edu	37	10	72291202	72291202	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:72291202C>T	ENST00000263563.6	+	5	893	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.R209W(1)									GCTGGCCATCCGGAAAGAGGT	0.617000													14	16					0	0	0.003163	0	0
IMPG2	50939	broad.mit.edu	37	3	100961605	100961605	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:100961605C>A	ENST00000193391.7	-	14	3136	c.2949G>T	c.(2947-2949)ctG>ctT	p.L983L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	983	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.L983L(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAAAGTCTTCCAGAATCATGT	0.413000													48	46					1.39193e-11	3.77766e-11	0.003610	1	0
CD163L1	283316	broad.mit.edu	37	12	7522016	7522016	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:7522016G>T	ENST00000313599.3	-	15	4033	c.3976C>A	c.(3976-3978)Cac>Aac	p.H1326N	CD163L1_ENST00000416109.2_Missense_Mutation_p.H1336N|CD163L1_ENST00000396630.1_Missense_Mutation_p.H1326N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1326	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.H1326N(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GGTTTGGCGTGACAGTCCCAT	0.542000													57	40					1.78197e-24	5.93829e-24	0.003610	1	0
LINC01317	104355287	broad.mit.edu	37	2	33952183	33952183	+	RNA	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:33952183G>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA														p.T220T(1)									CCGTCAGGTTGGTCACAGCCA	0.577000													11	3					0.000673444	0.00144825	0.000673	1	0
TMPRSS11F	389208	broad.mit.edu	37	4	68919688	68919688	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:68919688G>A	ENST00000356291.2	-	10	1315	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L	RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	419	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.P419L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GTAGACTCCAGGTTTTTTGGG	0.438000													21	67					0	0	0.001523	0	0
MYO1A	4640	broad.mit.edu	37	12	57432273	57432273	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:57432273C>A	ENST00000442789.2	-	18	1970	c.1683G>T	c.(1681-1683)ccG>ccT	p.P561P	MYO1A_ENST00000300119.3_Silent_p.P561P|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Silent_p.P399P	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	561	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.P561P(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCCCAGCAGTCGGGGGGCGTT	0.572000													38	37					6.90743e-12	1.89117e-11	0.003755	1	0
REG1A	5967	broad.mit.edu	37	2	79350291	79350291	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:79350291G>T	ENST00000233735.1	+	6	554	c.451G>T	c.(451-453)Gat>Tat	p.D151Y		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	151	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.D151Y(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GAAATGGAAGGATGTGCCTTG	0.428000													8	30					1.12685e-05	2.55132e-05	0.004482	1	0
KCNK18	338567	broad.mit.edu	37	10	118969098	118969098	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:118969098T>A	ENST00000334549.1	+	3	443	c.443T>A	c.(442-444)cTc>cAc	p.L148H		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	148						integral to membrane|plasma membrane		p.L148H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTCCTCGTTCTCACGGACACA	0.502000													166	157					0	0	0.003610	0	0
STK10	6793	broad.mit.edu	37	5	171488252	171488252	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:171488252C>T	ENST00000176763.5	-	14	2446	c.2103G>A	c.(2101-2103)aaG>aaA	p.K701K		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	701							ATP binding|protein serine/threonine kinase activity	p.K701K(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTCCTTCTGCTTGGCTACAA	0.577000													58	63					0	0	0.003610	0	0
PLK4	10733	broad.mit.edu	37	4	128808591	128808591	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:128808591G>T	ENST00000270861.5	+	6	1673	c.1399G>T	c.(1399-1401)Gca>Tca	p.A467S	PLK4_ENST00000513090.1_Missense_Mutation_p.A435S|PLK4_ENST00000514379.1_Missense_Mutation_p.A426S|PLK4_ENST00000515069.1_Missense_Mutation_p.A467S|PLK4_ENST00000507249.1_Missense_Mutation_p.A433S	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	467					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A467S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TTTTCCATTTGCAGACCCGAC	0.323000													11	12					0.00136819	0.00291709	0.001368	1	0
SPATA31A3	727830	broad.mit.edu	37	9	40702753	40702753	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:40702753C>A	ENST00000356699.5	+	4	439	c.410C>A	c.(409-411)tCc>tAc	p.S137Y	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.S137Y(2)									GCCTCCCAGTCCTCTCATGAG	0.592000													109	146					7.99423e-63	2.98403e-62	0.003610	1	0
CDH9	1007	broad.mit.edu	37	5	26881336	26881336	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:26881336C>A	ENST00000231021.4	-	12	2451	c.2279G>T	c.(2278-2280)tGt>tTt	p.C760F		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	760					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C760F(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCTTGGTTACAATCAGCTGT	0.453000													25	172					9.86323e-18	3.03465e-17	0.003954	1	0
ALK	238	broad.mit.edu	37	2	29420529	29420529	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:29420529G>T	ENST00000389048.3	-	27	4858	c.3952C>A	c.(3952-3954)Ctg>Atg	p.L1318M	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1318	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.L1318M(1)	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)	TCCCATAGCAGCACTCCAAAG	0.502000			"""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				11	90					1.08611e-07	2.60122e-07	0.000978	1	0
PKM	5315	broad.mit.edu	37	15	72495421	72495421	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:72495421C>A	ENST00000319622.6	-	9	1705	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L	PKM_ENST00000449901.2_Intron|PKM_ENST00000389093.3_Missense_Mutation_p.V417L|PKM_ENST00000335181.5_Intron|PKM_ENST00000568883.1_Missense_Mutation_p.V252L|PKM_ENST00000568459.1_Missense_Mutation_p.V417L|PKM_ENST00000565154.1_Missense_Mutation_p.V417L|PKM_ENST00000565184.1_Missense_Mutation_p.V417L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle									p.V417L(1)		endometrium(1)|lung(7)	8						GAAGCCTCCACGCTGCCCATG	0.537000													28	16					4.7796e-09	1.20264e-08	0.004656	1	0
ZNF454	285676	broad.mit.edu	37	5	178392833	178392833	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:178392833C>A	ENST00000320129.3	+	5	1731	c.1428C>A	c.(1426-1428)gcC>gcA	p.A476A	ZNF454_ENST00000519564.1_Silent_p.A476A	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A476E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GTGAGAAAGCCTTTATCCGAA	0.388000													35	47					2.20474e-14	6.32907e-14	0.003755	1	0
SORCS1	114815	broad.mit.edu	37	10	108378025	108378025	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:108378025C>A	ENST00000263054.6	-	21	2809	c.2802G>T	c.(2800-2802)ttG>ttT	p.L934F	SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.L934F|SORCS1_ENST00000369698.1_Missense_Mutation_p.L469F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	934						integral to membrane	neuropeptide receptor activity|protein binding	p.L934F(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCAAGGTGATCAAAGGCTAAA	0.458000													8	30					5.18039e-06	1.18586e-05	0.003080	1	0
UBC	7316	broad.mit.edu	37	12	125397360	125397360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:125397360C>A	ENST00000536769.1	-	1	2534	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	UBC_ENST00000546120.1_Nonsense_Mutation_p.E244*|UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Nonsense_Mutation_p.E320*			P0CG48	UBC_HUMAN	ubiquitin C	320	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.E320*(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGCTCCACTTCGAGAGTGATG	0.517000													105	122					1.23754e-74	4.66142e-74	0.003610	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52004768	52004768	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:52004768T>A	ENST00000291707.3	-	1	275	c.220A>T	c.(220-222)Att>Ttt	p.I74F		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	74	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding	p.I74F(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCCACTGGAATGTTCCGGCTT	0.577000													50	29					0	0	0.003610	0	0
DNER	92737	broad.mit.edu	37	2	230231815	230231815	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:230231815G>T	ENST00000341772.4	-	12	2010	c.1876C>A	c.(1876-1878)Cac>Aac	p.H626N		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	626					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.H626N(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCCGCCATGTGCCCGGACTTC	0.502000													4	25					0.000602214	0.00130183	0.000602	1	0
FAM46A	55603	broad.mit.edu	37	6	82461570	82461570	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:82461570G>T	ENST00000369754.3	-	2	658	c.346C>A	c.(346-348)Ccg>Acg	p.P116T	FAM46A_ENST00000369756.3_Missense_Mutation_p.P178T|FAM46A_ENST00000320172.6_Missense_Mutation_p.P97T			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	97								p.P97T(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		ATCAGGCTCGGCTGCAGCTCG	0.667000													11	32					1.58986e-06	3.70075e-06	0.000673	1	0
PAPD5	64282	broad.mit.edu	37	16	50261809	50261809	+	Silent	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr16:50261809G>A	ENST00000357464.3	+	12	1578	c.1578G>A	c.(1576-1578)ggG>ggA	p.G526G	PAPD5_ENST00000561678.1_Silent_p.G495G|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Silent_p.G605G			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	479					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.G605G(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		CGTCCACTGGGAACCGAGTAG	0.473000													33	39					0	0	0.003755	0	0
SNRPN	6638	broad.mit.edu	37	15	25221498	25221498	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:25221498G>T	ENST00000444203.2	+	4	1253	c.214G>T	c.(214-216)Ggt>Tgt	p.G72C	SNRPN_ENST00000390687.4_Missense_Mutation_p.G68C|SNRPN_ENST00000400098.1_Missense_Mutation_p.G68C|SNRPN_ENST00000554227.2_Missense_Mutation_p.G72C|SNRPN_ENST00000400097.1_Missense_Mutation_p.G68C|SNRPN_ENST00000346403.6_Missense_Mutation_p.G68C|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000577565.1_Missense_Mutation_p.G68C|SNRPN_ENST00000400100.1_Missense_Mutation_p.G68C			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	68					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	p.G68C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCGGGTTTTGGGTCTGGTGTT	0.448000									Prader-Willi syndrome				40	77					2.56175e-15	7.47477e-15	0.003610	1	0
KIR3DX1	90011	broad.mit.edu	37	19	55048369	55048369	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:55048369C>A	ENST00000335056.3	+	5	974	c.936C>A	c.(934-936)aaC>aaA	p.N312K	KIR3DX1_ENST00000482404.1_3'UTR														p.N312K(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		CCCGCTGCAACTTTACACCAC	0.597000													29	9					1.75199e-13	4.98334e-13	0.001271	1	0
OR5T1	390155	broad.mit.edu	37	11	56044028	56044028	+	Missense_Mutation	SNP	G	G	C	rs143790336		TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:56044028G>C	ENST00000313033.2	+	1	1000	c.914G>C	c.(913-915)cGg>cCg	p.R305P		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R305P(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TACAGTTTGCGGAACAAAGAT	0.343000													11	55					0	0	0.000673	0	0
KLHL5	51088	broad.mit.edu	37	4	39064576	39064576	+	Missense_Mutation	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:39064576G>C	ENST00000261425.3	+	2	456	c.304G>C	c.(304-306)Ggt>Cgt	p.G102R	KLHL5_ENST00000504108.1_Missense_Mutation_p.G148R|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000261426.5_Missense_Mutation_p.G148R|KLHL5_ENST00000359687.2_Missense_Mutation_p.G148R|KLHL5_ENST00000381930.3_Missense_Mutation_p.G148R	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	148						cytoplasm|cytoskeleton	actin binding	p.G148R(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGATTGTGGCGGTGCACATTG	0.448000													58	90					0	0	0.003610	0	0
KCNIP1	30820	broad.mit.edu	37	5	170160894	170160894	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:170160894T>C	ENST00000328939.4	+	7	1132	c.595T>C	c.(595-597)Tgt>Cgt	p.C199R	KCNIP1_ENST00000520740.1_Missense_Mutation_p.C171R|KCNIP1_ENST00000377360.4_Missense_Mutation_p.C208R|KCNIP1_ENST00000434108.1_Missense_Mutation_p.C224R|KCNIP1_ENST00000390656.4_Missense_Mutation_p.C199R|KCNIP1_ENST00000411494.1_Missense_Mutation_p.C210R	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	210	EF-hand 4.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.C208R(1)|p.C210R(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTTGAATCATGTCAGGAGGT	0.428000													10	26					0	0	0.001855	0	0
NYAP1	222950	broad.mit.edu	37	7	100087213	100087213	+	Silent	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:100087213C>A	ENST00000423930.1	+	4	2028	c.1869C>A	c.(1867-1869)ggC>ggA	p.G623G	NYAP1_ENST00000454988.1_Silent_p.G566G|NYAP1_ENST00000300179.2_Silent_p.G623G			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	623								p.G623G(1)									AGGAGGTGGGCGCCGCGACAT	0.627000													25	46					2.39556e-15	7.00632e-15	0.002780	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			46	10					0	0	0.003610	0	0
MYO18A	399687	broad.mit.edu	37	17	27420399	27420399	+	Missense_Mutation	SNP	T	T	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:27420399T>C	ENST00000527372.1	-	32	5048	c.4868A>G	c.(4867-4869)cAg>cGg	p.Q1623R	MYO18A_ENST00000533112.1_Missense_Mutation_p.Q1586R|MYO18A_ENST00000354329.4_Missense_Mutation_p.Q1623R|MYO18A_ENST00000531253.1_Missense_Mutation_p.Q1623R	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1623					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.Q1623R(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CAGAACCTTCTGCTTGTCCTC	0.607000													11	23					0	0	0.000978	0	0
SLC52A3	113278	broad.mit.edu	37	20	742374	742374	+	Nonsense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr20:742374G>A	ENST00000381944.3	-	4	1409	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Nonsense_Mutation_p.Q390*			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	390					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	p.Q390*(1)									CAGTGGCCCTGCAAGAGGGGG	0.652000													13	18					0	0	0.002450	0	0
KANK1	23189	broad.mit.edu	37	9	732575	732575	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:732575A>T	ENST00000382303.1	+	10	3855	c.3203A>T	c.(3202-3204)cAg>cTg	p.Q1068L	KANK1_ENST00000382297.2_Missense_Mutation_p.Q1068L|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.Q910L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1068					negative regulation of actin filament polymerization	cytoplasm		p.Q910L(1)|p.Q1068L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GATGAAATGCAGGTTCAAGAA	0.493000													96	28					0	0	0.003610	0	0
PAX4	5078	broad.mit.edu	37	7	127255045	127255045	+	Silent	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:127255045A>T	ENST00000341640.2	-	2	430	c.225T>A	c.(223-225)ccT>ccA	p.P75P	PAX4_ENST00000338516.3_Silent_p.P83P|PAX4_ENST00000378740.2_Silent_p.P75P|PAX4_ENST00000463946.1_Silent_p.P73P	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	83	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P75P(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GAGCCACCACAGGGGGTGTAG	0.582000													19	66					0	0	0.000958	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39383291	39383291	+	Missense_Mutation	SNP	C	C	G	rs145566824		TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:39383291C>G	ENST00000377721.3	+	1	392	c.385C>G	c.(385-387)Cct>Gct	p.P129A	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.P113A	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	129	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding	p.P129A(1)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGTCTGCCTGCCTGGTTGCCT	0.622000													49	89					0	0	0.003610	0	0
YTHDC2	64848	broad.mit.edu	37	5	112903427	112903427	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:112903427G>T	ENST00000161863.4	+	23	3338	c.3125G>T	c.(3124-3126)aGa>aTa	p.R1042I		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1042							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R1042I(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GAAATGACCAGAGCCCATAGA	0.393000													25	30					1.16857e-26	3.95785e-26	0.003954	1	0
FGF13	2258	broad.mit.edu	37	X	137715142	137715142	+	Missense_Mutation	SNP	T	T	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:137715142T>A	ENST00000315930.6	-	5	1268	c.607A>T	c.(607-609)Atg>Ttg	p.M203L	FGF13_ENST00000370603.3_Missense_Mutation_p.M213L|FGF13_ENST00000305414.4_Missense_Mutation_p.M150L|FGF13_ENST00000541469.1_Missense_Mutation_p.M157L|FGF13_ENST00000441825.2_Missense_Mutation_p.M184L	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	203					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.M150L(1)|p.M213L(1)|p.M203L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCTTGTACATGGCCACTGAA	0.483000													26	13					0	0	0.004656	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917186	42917186	+	Silent	SNP	G	G	C			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:42917186G>C	ENST00000316161.4	-	1	447	c.123C>G	c.(121-123)ccC>ccG	p.P41P	ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.P41P	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	41					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	p.P41P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GGCCAAGCCAGGGCACGGTAC	0.587000													11	37					0	0	0.001368	0	0
DENND5B	160518	broad.mit.edu	37	12	31540672	31540672	+	Silent	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:31540672G>T	ENST00000389082.5	-	21	3954	c.3690C>A	c.(3688-3690)gcC>gcA	p.A1230A	DENND5B_ENST00000306833.6_Silent_p.A1265A|DENND5B_ENST00000536562.1_Silent_p.A1265A	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1230	RUN 2.					integral to membrane		p.A1230A(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTCGAGTGATGGCAGGACACT	0.517000													104	22					1.73998e-50	6.3988e-50	0.003610	1	0
PTCHD2	57540	broad.mit.edu	37	1	11561436	11561436	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:11561436G>T	ENST00000294484.6	+	2	525	c.387G>T	c.(385-387)caG>caT	p.Q129H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Q129H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	129					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.Q346H(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TTAAGTCCCAGTTTGGATCCT	0.597000													11	13					1.61879e-10	4.2721e-10	0.001368	1	0
AKAP9	10142	broad.mit.edu	37	7	91729041	91729041	+	Missense_Mutation	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:91729041C>T	ENST00000359028.2	+	44	10991	c.10766C>T	c.(10765-10767)aCt>aTt	p.T3589I	AKAP9_ENST00000358100.2_Missense_Mutation_p.T3535I|AKAP9_ENST00000356239.3_Missense_Mutation_p.T3585I			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3589					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.T3585I(1)|p.T3589I(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGCTCATTGACTGAAAGACTA	0.413000			T	BRAF	papillary thyroid								69	180					0	0	0.003610	0	0
NR3C1	2908	broad.mit.edu	37	5	142675083	142675083	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:142675083C>A	ENST00000343796.2	-	7	2958	c.1965G>T	c.(1963-1965)agG>agT	p.R655S	NR3C1_ENST00000394464.2_Missense_Mutation_p.R655S|NR3C1_ENST00000424646.2_Missense_Mutation_p.R629S|NR3C1_ENST00000415690.2_Missense_Mutation_p.R655S|NR3C1_ENST00000231509.3_Missense_Mutation_p.R656S|NR3C1_ENST00000503201.1_Missense_Mutation_p.R655S|NR3C1_ENST00000416954.2_Missense_Mutation_p.R258S|NR3C1_ENST00000394466.2_Missense_Mutation_p.R656S|NR3C1_ENST00000504572.1_Missense_Mutation_p.R656S	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	655	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.R655S(1)|p.R656S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	ATACCTGAAGCCTGTGTAACT	0.398000													15	45					1.62849e-17	4.98575e-17	0.004007	1	0
TRAV17	28666	broad.mit.edu	37	14	22466300	22466300	+	RNA	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr14:22466300A>T	ENST00000390445.2	+	0	377																											AGAGAGAAACACAGTGGAAGA	0.403000													40	49					0	0	0.002222	0	0
NAV3	89795	broad.mit.edu	37	12	78400496	78400496	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:78400496C>G	ENST00000397909.2	+	8	1351	c.1178C>G	c.(1177-1179)gCc>gGc	p.A393G	NAV3_ENST00000536525.2_Missense_Mutation_p.A393G|NAV3_ENST00000228327.6_Missense_Mutation_p.A393G|NAV3_ENST00000266692.7_Missense_Mutation_p.A393G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	393						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.A393G(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTAGTCAATGCCCGGACTGCT	0.502000										HNSCC(70;0.22)			28	72					0	0	0.001061	0	0
ZNF692	55657	broad.mit.edu	37	1	249152029	249152029	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:249152029G>A	ENST00000451251.1	-	3	569	c.224C>T	c.(223-225)gCa>gTa	p.A75V	ZNF692_ENST00000306601.4_Missense_Mutation_p.A70V|ZNF692_ENST00000366469.5_Missense_Mutation_p.A70V|ZNF692_ENST00000427146.1_Missense_Mutation_p.A70V|ZNF692_ENST00000366471.3_Missense_Mutation_p.A70V	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A70V(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTACCTACCTGCACAGAGGAC	0.597000													10	9					0	0	0.000978	0	0
LRRC7	57554	broad.mit.edu	37	1	70518721	70518721	+	Missense_Mutation	SNP	C	C	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:70518721C>G	ENST00000310961.5	+	23	4301	c.3883C>G	c.(3883-3885)Caa>Gaa	p.Q1295E	LRRC7_ENST00000035383.5_Missense_Mutation_p.Q1337E|LRRC7_ENST00000415775.2_Missense_Mutation_p.Q621E			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1337						centrosome|focal adhesion|nucleolus	protein binding	p.Q1337E(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCGTCCCAGCAAAGCAACAT	0.423000													20	74					0	0	0.002780	0	0
GCC2	9648	broad.mit.edu	37	2	109086135	109086135	+	Missense_Mutation	SNP	A	A	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:109086135A>T	ENST00000309863.6	+	6	1064	c.350A>T	c.(349-351)cAt>cTt	p.H117L	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	117					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.H117L(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GGAGATGCACATAAGGAGTTG	0.318000													30	67					0	0	0.003271	0	0
BCL6	604	broad.mit.edu	37	3	187440335	187440335	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:187440335G>A	ENST00000406870.2	-	10	2398	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	BCL6_ENST00000450123.2_Missense_Mutation_p.R622C|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R678C	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	678					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R678C(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGCTTCTGGCGCAAGTGAAGT	0.547000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								5	70					0	0	0.000602	0	0
AP3S1	1176	broad.mit.edu	37	5	115205814	115205814	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr5:115205814G>T	ENST00000316788.7	+	3	819	c.262G>T	c.(262-264)Gat>Tat	p.D88Y		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	88					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	p.D88Y(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TGGCATTTTAGATCTAATTCA	0.259000													11	53					1.49906e-05	3.3756e-05	0.002450	1	0
KIF9	64147	broad.mit.edu	37	3	47308467	47308467	+	Splice_Site	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:47308467C>A	ENST00000335044.2	-	7	1124	c.768_splice	c.e7+1	p.G256_splice	KIF9_ENST00000352910.4_Splice_Site_p.G163_splice|KIF9_ENST00000444589.2_Splice_Site_p.G256_splice|KIF9_ENST00000452770.2_Splice_Site_p.G256_splice|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Splice_Site_p.G256_splice	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	256	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G256V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATCACTTACCCCAGACTTCCC	0.498000													27	30					2.12542e-12	5.89708e-12	0.001061	1	0
WDR12	55759	broad.mit.edu	37	2	203776157	203776157	+	Splice_Site	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:203776157A>G	ENST00000261015.3	-	1	791		c.e1+1		WDR12_ENST00000477723.1_Intron	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12						cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	p.?(1)		endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						ACGCTTACTTACTTCTTGTTA	0.537000													40	50					0	0	0.002222	0	0
FAT4	79633	broad.mit.edu	37	4	126411157	126411157	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:126411157G>A	ENST00000394329.3	+	17	13193	c.13180G>A	c.(13180-13182)Gtg>Atg	p.V4394M	FAT4_ENST00000335110.5_Missense_Mutation_p.V2635M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4394	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V4394M(1)|p.V4337M(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGATCCCTCAGTGAAGATTGG	0.512000													46	274					0	0	0.003214	0	0
SATB2	23314	broad.mit.edu	37	2	200298192	200298192	+	Missense_Mutation	SNP	G	G	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:200298192G>A	ENST00000417098.1	-	3	1031	c.215C>T	c.(214-216)tCt>tTt	p.S72F	SATB2_ENST00000260926.5_Missense_Mutation_p.S72F|SATB2_ENST00000457245.1_Missense_Mutation_p.S72F|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000428695.1_Missense_Mutation_p.S72F	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	72						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.S72F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATATTCAAGAGAGCCGTCCAA	0.478000													31	128					0	0	0.004878	0	0
JADE1	79960	broad.mit.edu	37	4	129789081	129789081	+	Missense_Mutation	SNP	A	A	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:129789081A>G	ENST00000226319.6	+	10	1854	c.1574A>G	c.(1573-1575)cAg>cGg	p.Q525R	PHF17_ENST00000512960.1_Missense_Mutation_p.Q525R|PHF17_ENST00000452328.2_Missense_Mutation_p.Q513R	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		525					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	p.Q525R(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GTCCAGGAACAGATATTCAAT	0.413000													15	61					0	0	0.004990	0	0
CBX5	23468	broad.mit.edu	37	12	54639997	54639997	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:54639997C>A	ENST00000209875.4	-	4	463	c.327G>T	c.(325-327)caG>caT	p.Q109H	CBX5_ENST00000550411.1_Missense_Mutation_p.Q109H|CBX5_ENST00000439541.2_Missense_Mutation_p.Q109H	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	109					blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	p.Q109H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TATCATTGCTCTGCTATAAAT	0.398000													66	76					1.42676e-28	4.89907e-28	0.003610	1	0
ZNF713	349075	broad.mit.edu	37	7	56007028	56007028	+	Missense_Mutation	SNP	G	G	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr7:56007028G>T	ENST00000429591.2	+	4	660	c.622G>T	c.(622-624)Gac>Tac	p.D208Y	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D208Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATAATTCAGACTTGATTTA	0.343000													28	37					1.08312e-15	3.19791e-15	0.001786	1	0
POLN	353497	broad.mit.edu	37	4	2160923	2160923	+	Missense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:2160923C>A	ENST00000511885.2	-	14	1923	c.1570G>T	c.(1570-1572)Gac>Tac	p.D524Y	POLN_ENST00000382865.1_Missense_Mutation_p.D524Y|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	524					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	p.D524Y(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GGATGAAGGTCTCGCAGAGCA	0.353000								DNA polymerases (catalytic subunits)					42	69					3.61183e-13	1.02267e-12	0.003610	1	0
MEN1	4221	broad.mit.edu	37	11	64574664	64574664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:64574664C>A	ENST00000337652.1	-	5	1329	c.826G>T	c.(826-828)Gga>Tga	p.G276*	MEN1_ENST00000377313.1_Nonsense_Mutation_p.G276*|MEN1_ENST00000394374.2_Nonsense_Mutation_p.G276*|MEN1_ENST00000377326.3_Nonsense_Mutation_p.G271*|MEN1_ENST00000443283.1_Nonsense_Mutation_p.G276*|MEN1_ENST00000315422.4_Nonsense_Mutation_p.G271*|MEN1_ENST00000377321.1_Nonsense_Mutation_p.G236*|MEN1_ENST00000394376.1_Nonsense_Mutation_p.G276*|MEN1_ENST00000312049.6_Nonsense_Mutation_p.G271*|MEN1_ENST00000377316.2_Nonsense_Mutation_p.G271*	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	276	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.Y268_R275>*(1)|p.G271*(1)|p.?(1)|p.L267fs*42(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TCCAGATGTCCCAGGTCATAG	0.597000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				8	23					0.000673444	0.00144825	0.000673	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458691	45458691	+	RNA	SNP	C	C	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:45458691C>A	ENST00000548424.1	+	0	448																											TAAAATGGAACCAGATTCATC	0.438000													17	29					0.00074312	0.00159533	0.006122	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													5	31					0	0	0.001168	0	0
TLR8	51311	broad.mit.edu	37	X	12938644	12938644	+	Silent	SNP	C	C	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chrX:12938644C>T	ENST00000218032.6	+	2	1572	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	TLR8_ENST00000311912.5_Silent_p.F513F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	495					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.F513F(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTATTTTCTTCATTGGGCCAA	0.378000													34	28					0	0	0.002836	0	0
GCNT3	9245	broad.mit.edu	37	15	59911449	59911449	+	Missense_Mutation	SNP	C	C	A	rs149420777	by1000genomes	TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr15:59911449C>A	ENST00000396065.1	+	3	1460	c.1012C>A	c.(1012-1014)Cgt>Agt	p.R338S	GCNT3_ENST00000560585.1_Missense_Mutation_p.R338S	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	338					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.R338S(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACCCTTCAGCGTGCACGGTG	0.507000													60	27					9.59835e-30	3.33261e-29	0.003610	1	0
SPTA1	6708	broad.mit.edu	37	1	158646003	158646005	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr1:158646003_158646005delTCT	ENST00000368148.3	-	8	1218_1220	c.1038_1040delAGA	c.(1036-1041)gat>ga	p.ED346del	SPTA1_ENST00000368147.3_In_Frame_Del_p.ED346del	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	346					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGAGACCAGATCTTCTTTCATCT	0.473													57	722	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141214099	141214100	+	Frame_Shift_Ins	INS	-	-	T	rs150113526	byFrequency	TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr2:141214099_141214100insT	ENST00000389484.3	-	62	10858_10859	c.9887_9888insA	c.(9886-9888)cacfs	p.H3296fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3296					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGCACAAGTGTGGGTTTTTCC	0.436										TSP Lung(27;0.18)			14	131	---	---	---	---					
LINC00691	152024	broad.mit.edu	37	3	24138196	24138196	+	RNA	DEL	T	T	-			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr3:24138196delT	ENST00000436123.1	-	0	2527																											TTTTTTCCTGTTTTTTTTGAA	0.333													2	4	---	---	---	---					
PAQR3	152559	broad.mit.edu	37	4	79847797	79847806	+	Frame_Shift_Del	DEL	AATTGGGATG	AATTGGGATG	-			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr4:79847797_79847806delAATTGGGATG	ENST00000512733.1	-	4	784_793	c.571_580delCATCCCAATT	c.(571-582)acfs	p.HPNY191fs	PAQR3_ENST00000380645.4_Frame_Shift_Del_p.HPNY191fs|PAQR3_ENST00000295462.3_3'UTR	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	191						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TGCGTGAGGTAATTGGGATGAATCTGCGCA	0.443													23	158	---	---	---	---					
NRM	11270	broad.mit.edu	37	6	30657172	30657172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:30657172delC	ENST00000259953.4	-	4	739	c.388delG	c.(388-390)ctfs	p.A130fs	NRM_ENST00000376420.5_Intron|NRM_ENST00000376421.5_Frame_Shift_Del_p.A130fs|NRM_ENST00000470733.1_5'UTR	NM_001270707.1	NP_001257636.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	130						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						CATGGCTCAGCCCGAGCCTCC	0.582													2	4	---	---	---	---					
LAMA4	3910	broad.mit.edu	37	6	112510338	112510338	+	Frame_Shift_Del	DEL	G	G	-	rs113248952		TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr6:112510338delG	ENST00000230538.7	-	7	1185	c.788delC	c.(787-789)ctfs	p.P263fs	LAMA4_ENST00000522006.1_Frame_Shift_Del_p.P263fs|LAMA4_ENST00000389463.4_Frame_Shift_Del_p.P263fs|LAMA4_ENST00000424408.2_Frame_Shift_Del_p.P263fs	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	263	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATGCCTGTAGGGGGTTCAAA	0.458													10	43	---	---	---	---					
OR13C5	138799	broad.mit.edu	37	9	107361415	107361415	+	Frame_Shift_Del	DEL	G	G	-			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr9:107361415delG	ENST00000374779.2	-	1	373	c.280delC	c.(280-282)ttfs	p.L94fs		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CAGCCAGAAAGGGAAATGGTC	0.522													34	29	---	---	---	---					
ST8SIA6	338596	broad.mit.edu	37	10	17363151	17363152	+	Frame_Shift_Ins	INS	-	-	A			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr10:17363151_17363152insA	ENST00000377602.4	-	8	996_997	c.922_923insT	c.(922-924)cctfs	p.P308fs		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	308					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CCAGAAAAGGGCCAGATCTTTC	0.446													106	272	---	---	---	---					
DDB1	1642	broad.mit.edu	37	11	61081431	61081431	+	Frame_Shift_Del	DEL	A	A	-			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:61081431delA	ENST00000301764.7	-	15	2161	c.1764delT	c.(1762-1764)ccfs	p.P588fs	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	588	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATGGAGCGAGGAATGATCT	0.488								Nucleotide excision repair (NER)					33	26	---	---	---	---					
EEF1G	1937	broad.mit.edu	37	11	62327811	62327812	+	Frame_Shift_Ins	INS	-	-	T			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr11:62327811_62327812insT	ENST00000378019.3	-	8	1212_1213	c.1122_1123insA	c.(1120-1125)tcagtafs	p.V375fs	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000329251.4_Frame_Shift_Ins_p.V325fs			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	325	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGCGATACTCTGAGTACCACA	0.485													9	11	---	---	---	---					
SLC8B1	80024	broad.mit.edu	37	12	113737668	113737669	+	Frame_Shift_Ins	INS	-	-	AT	rs144434177		TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr12:113737668_113737669insAT	ENST00000552014.1	-	17	2183_2184	c.1668_1669insAT	c.(1666-1671)tagcttfs	p.L557fs	SLC24A6_ENST00000202831.3_Frame_Shift_Ins_p.L557fs|SLC24A6_ENST00000546737.1_Frame_Shift_Ins_p.L501fs|SLC24A6_ENST00000549069.1_Frame_Shift_Ins_p.L116fs|SLC24A6_ENST00000550047.1_Frame_Shift_Ins_p.L72fs			Q6J4K2	NCKX6_HUMAN		557					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						AGGCAGAAGCCATAGACTCTGC	0.569													48	51	---	---	---	---					
ATP5A1	498	broad.mit.edu	37	18	43668094	43668096	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr18:43668094_43668096delCAC	ENST00000593152.2	-	6	1167_1169	c.628_630delGTG	c.(628-630)del	p.V210del	ATP5A1_ENST00000590665.1_In_Frame_Del_p.V238del|ATP5A1_ENST00000398752.6_In_Frame_Del_p.V260del|ATP5A1_ENST00000282050.2_In_Frame_Del_p.V260del	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	260					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						TAAGTCTCTTCACCAACTGGGCA	0.365													26	58	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9072450	9072451	+	Frame_Shift_Ins	INS	-	-	G			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr19:9072450_9072451insG	ENST00000397910.4	-	3	15198_15199	c.14995_14996insC	c.(14995-14997)ggcfs	p.G4999fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5001	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						GATCCCTGCCTGGGGGGTTGTA	0.465													20	47	---	---	---	---					
TPTE	7179	broad.mit.edu	37	21	10942744	10942744	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr21:10942744delC	ENST00000298232.7	-	12	1010	c.643delG	c.(643-645)atfs	p.D215fs	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Frame_Shift_Del_p.D233fs|TPTE_ENST00000342420.5_Frame_Shift_Del_p.D195fs	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	233					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D215N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATCCATCCCTTGTGTAT	0.308													62	456	---	---	---	---					
AP003900.6	0	broad.mit.edu	37	21	11181024	11181025	+	RNA	DEL	CG	CG	-	rs2078271	by1000genomes	TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr21:11181024_11181025delCG	ENST00000603265.1	+	0	231																											AGCATGGTCTCGAAGTCATCGG	0.465													58	514	---	---	---	---					
POTEH	23784	broad.mit.edu	37	22	16287387	16287387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-91-6836-01A-21D-1855-08	TCGA-91-6836-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87045814-366d-4e42-97f2-ad341c620c47	101885ac-5c0c-450d-a2f9-7cd40c2a074a	g.chr22:16287387delC	ENST00000343518.6	-	1	550	c.499delG	c.(499-501)agfs	p.E167fs		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	167								p.E167K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TACCTCGGCTCCATGAAAGCG	0.587													42	97	---	---	---	---