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
SH3TC2	79628	broad.mit.edu	37	5	148386534	148386534	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:148386534G>A	ENST00000515425.1	-	16	3686	c.3585C>T	c.(3583-3585)ctC>ctT	p.L1195L	SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000502274.1_Silent_p.L57L|SH3TC2_ENST00000512049.1_Silent_p.L1188L	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1195							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTGGACAGAGGGACAGGG	0.562000													34	53					0	0	0.0024448	0	0
KRT83	3889	broad.mit.edu	37	12	52709783	52709783	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:52709783C>G	ENST00000293670.3	-	7	1218	c.1156G>C	c.(1156-1158)Gac>Cac	p.D386H	AC121757.1_ENST00000594763.1_Missense_Mutation_p.S23C	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	386	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGGCCATGTCTTGCTTGGCC	0.647000													24	32					0	0	0.00278032	0	0
CDHR2	54825	broad.mit.edu	37	5	176012980	176012980	+	Silent	SNP	C	C	T	rs114350001	by1000genomes	TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:176012980C>T	ENST00000510636.1	+	20	3034	c.2760C>T	c.(2758-2760)gaC>gaT	p.D920D	CDHR2_ENST00000506348.1_Silent_p.D920D|CDHR2_ENST00000261944.5_Silent_p.D920D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	920	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCATTGAGGACGTGAATGACA	0.522000													29	50					0	0	0.00209593	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99227079	99227079	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:99227079C>T	ENST00000394152.2	+	8	1398	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Silent_p.F357F|ZSCAN25_ENST00000262941.6_Silent_p.F285F	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		GGAAAGGATTCAGTCGGAGCT	0.562000													11	18					0	0	0.000978159	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197245	204197245	+	Silent	SNP	C	C	T	rs142523085		TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:204197245C>T	ENST00000272203.3	-	21	3313	c.2997G>A	c.(2995-2997)gcG>gcA	p.A999A	PLEKHA6_ENST00000414478.1_Silent_p.A1019A	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	999										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGCCTCGGTCGCCAGGGCGC	0.662000													12	9					0	0	0.000978159	0	0
SERPINB8	5271	broad.mit.edu	37	18	61647113	61647113	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr18:61647113C>G	ENST00000397985.2	+	3	503	c.247C>G	c.(247-249)Cag>Gag	p.Q83E	HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.Q83E|SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000353706.2_Missense_Mutation_p.Q83E	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	83					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AACTGGCACTCAGTACTTGCT	0.403000											OREG0025042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	43					0	0	0.0025221	0	0
GRIN2C	2905	broad.mit.edu	37	17	72847788	72847788	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:72847788G>A	ENST00000293190.5	-	4	1187	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F	GRIN2C_ENST00000347612.4_Silent_p.F347F	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	347					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CACCAGGGCTGAAGGAGAAGT	0.662000													3	4					0	0	6.4e-05	0	0
MED25	81857	broad.mit.edu	37	19	50333088	50333088	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:50333088C>G	ENST00000312865.6	+	6	624	c.571C>G	c.(571-573)Ctt>Gtt	p.L191V	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	191	Interaction with the Mediator complex.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCTGCCTGCGCTTCGGCTTCT	0.652000													7	9					0	0	0.00198382	0	0
PI4KB	5298	broad.mit.edu	37	1	151265459	151265459	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:151265459C>G	ENST00000368875.2	-	13	2936	c.2356G>C	c.(2356-2358)Gag>Cag	p.E786Q	PI4KB_ENST00000368874.4_Missense_Mutation_p.E759Q|PI4KB_ENST00000271657.5_Missense_Mutation_p.E786Q|PI4KB_ENST00000368872.1_Missense_Mutation_p.E759Q|PI4KB_ENST00000529142.1_Missense_Mutation_p.E442Q|PI4KB_ENST00000368873.1_Missense_Mutation_p.E774Q	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	774					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGAACCTCTCTTTGAGGTTT	0.562000													43	11					0	0	0.00285205	0	0
FGF13	2258	broad.mit.edu	37	X	137715036	137715036	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chrX:137715036G>C	ENST00000315930.6	-	5	1374	c.713C>G	c.(712-714)tCc>tGc	p.S238C	FGF13_ENST00000370603.3_Missense_Mutation_p.S248C|FGF13_ENST00000441825.2_Missense_Mutation_p.S219C|FGF13_ENST00000305414.4_Missense_Mutation_p.S185C|FGF13_ENST00000541469.1_Missense_Mutation_p.S192C	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	238					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GTGGCTCATGGATTTGCCTCC	0.527000													75	7					0	0	0.00361006	0	0
IFNB1	3456	broad.mit.edu	37	9	21077682	21077682	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:21077682C>T	ENST00000380232.2	-	1	261	c.187G>A	c.(187-189)Gag>Aag	p.E63K		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	63					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TTAATCTCCTCAGGGATGTCA	0.463000													29	24					0	0	0.00106085	0	0
ATP6V1E1	529	broad.mit.edu	37	22	18111393	18111393	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr22:18111393G>A	ENST00000253413.5	-	1	191	c.9C>T	c.(7-9)ctC>ctT	p.L3L	ATP6V1E1_ENST00000478963.1_5'UTR|ATP6V1E1_ENST00000399798.2_Silent_p.L3L|ATP6V1E1_ENST00000399796.2_Silent_p.L3L	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	3					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		CAGCATCGCTGAGAGCCATGG	0.612000													78	128					0	0	0.00361006	0	0
WDR78	79819	broad.mit.edu	37	1	67356879	67356879	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:67356879C>T	ENST00000371026.3	-	4	656	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	WDR78_ENST00000371023.3_Missense_Mutation_p.E201K|WDR78_ENST00000371022.3_Missense_Mutation_p.E201K|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	201										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						GATGGTTCTTCCAGGTCTTCT	0.323000													16	61					0	0	0.00400662	0	0
STAT4	6775	broad.mit.edu	37	2	191905832	191905832	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr2:191905832C>G	ENST00000392320.2	-	15	1608	c.1294G>C	c.(1294-1296)Gaa>Caa	p.E432Q	STAT4_ENST00000358470.4_Missense_Mutation_p.E432Q|STAT4_ENST00000470708.1_5'UTR	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	432					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ATCTGTGTTTCAAACGTTATG	0.383000													44	6					0	0	0.00285205	0	0
STAT2	6773	broad.mit.edu	37	12	56744663	56744663	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:56744663C>T	ENST00000314128.4	-	11	1067	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	STAT2_ENST00000557235.1_Silent_p.V344V|STAT2_ENST00000418572.2_Silent_p.V344V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	348					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			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCTGGAGTCTCACCAGCAGCC	0.527000													18	62					0	0	0.000958276	0	0
HTR3A	3359	broad.mit.edu	37	11	113857253	113857253	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:113857253G>A	ENST00000504030.2	+	7	1164	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	HTR3A_ENST00000375498.2_Missense_Mutation_p.R246Q|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000355556.2_Missense_Mutation_p.R246Q|HTR3A_ENST00000299961.5_Missense_Mutation_p.R225Q|HTR3A_ENST00000506841.2_Missense_Mutation_p.R240Q			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	240					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R240Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GTCATCCGCCGGCGGCCCCTC	0.602000													27	37					0	0	0.00127121	0	0
COL4A1	1282	broad.mit.edu	37	13	110823065	110823065	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr13:110823065C>T	ENST00000375820.4	-	42	3692	c.3571G>A	c.(3571-3573)Gtg>Atg	p.V1191M		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1191	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGAAACCCACCTCACCCTTT	0.567000													21	14					0	0	0.00332997	0	0
PAOX	196743	broad.mit.edu	37	10	135195066	135195066	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr10:135195066G>T	ENST00000278060.5	+	3	854	c.771G>T	c.(769-771)caG>caT	p.Q257H	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.Q257H|PAOX_ENST00000480071.2_Missense_Mutation_p.Q257H	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	395					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GGTCCTTCCAGGAGGCAGCCT	0.577000													16	2					6.72482e-11	1.59816e-10	0.00316338	1	0
TRIOBP	11078	broad.mit.edu	37	22	38121578	38121578	+	Silent	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr22:38121578C>G	ENST00000406386.3	+	7	3270	c.3015C>G	c.(3013-3015)acC>acG	p.T1005T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1005					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTCCCCTGACCTCTCCTGAGC	0.652000													81	15					0	0	0.00361006	0	0
SCEL	8796	broad.mit.edu	37	13	78163298	78163298	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr13:78163298C>G	ENST00000535157.1	+	9	669	c.499C>G	c.(499-501)Cca>Gca	p.P167A	SCEL_ENST00000377246.3_Missense_Mutation_p.P189A|SCEL_ENST00000349847.3_Missense_Mutation_p.P189A	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	189					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGTTCACCCTCCAATACCTCC	0.393000													38	31					0	0	0.00148497	0	0
KAT6B	23522	broad.mit.edu	37	10	76735715	76735715	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr10:76735715G>A	ENST00000287239.4	+	8	2109	c.1620G>A	c.(1618-1620)ctG>ctA	p.L540L	KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	540	Negatively regulates HAT activity.				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										ACAGCCAGCTGAAGGCACTCT	0.537000													21	93					0	0	0.00152264	0	0
TAF7	6879	broad.mit.edu	37	5	140698974	140698974	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:140698974G>C	ENST00000313368.5	-	1	1356	c.638C>G	c.(637-639)tCa>tGa	p.S213*		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	213					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTTCTAATGAGTCATGGCC	0.458000													53	50					0	0	0.00361006	0	0
OR4C15	81309	broad.mit.edu	37	11	55322292	55322292	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:55322292C>T	ENST00000314644.2	+	1	510	c.510C>T	c.(508-510)gcC>gcT	p.A170A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						TCCTCACAGCCATGGCCTATG	0.493000										HNSCC(20;0.049)			38	34					0	0	0.000953801	0	0
FURIN	5045	broad.mit.edu	37	15	91424679	91424679	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:91424679G>A	ENST00000268171.3	+	16	2235	c.1956G>A	c.(1954-1956)caG>caA	p.Q652Q		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	652	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCACATGCCAGGGGCCGGCCC	0.667000													30	35					0	0	0.00178596	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530688	140530688	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:140530688G>C	ENST00000231136.1	+	1	850	c.850G>C	c.(850-852)Gat>Cat	p.D284H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D148H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		284	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.D284N(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTTCAAGTCGATGACGTCAA	0.468000													26	27					0	0	0.00465635	0	0
POT1	25913	broad.mit.edu	37	7	124493045	124493045	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:124493045C>T	ENST00000357628.3	-	10	1448	c.850G>A	c.(850-852)Gat>Aat	p.D284N	POT1_ENST00000393329.1_Missense_Mutation_p.D153N	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	284					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TGATCCACATCAGAGTTACTT	0.368000													6	13					0	0	0.00116845	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908088	139908088	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:139908088C>A	ENST00000297183.6	+	29	5681	c.5557C>A	c.(5557-5559)Cac>Aac	p.H1853N	ANKHD1_ENST00000360839.2_Missense_Mutation_p.H1853N|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.H1853N|ANKHD1_ENST00000544120.1_Missense_Mutation_p.H236N	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTTATCCTCACCCTCATTT	0.453000													35	76					8.73648e-17	2.10798e-16	0.00428921	1	0
CX3CR1	1524	broad.mit.edu	37	3	39307647	39307647	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:39307647G>A	ENST00000541347.1	-	2	593	c.354C>T	c.(352-354)ttC>ttT	p.F118F	CX3CR1_ENST00000358309.3_Silent_p.F150F|CX3CR1_ENST00000399220.2_Silent_p.F118F|CX3CR1_ENST00000542107.1_Silent_p.F118F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	118					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CGGTGATGAAGAATATGCTTC	0.498000													45	51					0	0	0.0025221	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885119	24885119	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr14:24885119C>T	ENST00000382554.3	+	9	4482	c.4164C>T	c.(4162-4164)ctC>ctT	p.L1388L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1388					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGTGGGAGCTCCTGCCCCTCT	0.627000													46	54					0	0	0.00321405	0	0
SHC1	6464	broad.mit.edu	37	1	154942858	154942858	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:154942858G>A	ENST00000448116.2	-	1	365	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Silent_p.L49L|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368449.4_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	49					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCCCAGGCAGAGGAGGCAGG	0.662000													8	36					0	0	0.00448238	0	0
LILRA6	79168	broad.mit.edu	37	19	54745909	54745909	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:54745909C>T	ENST00000440558.2	-	3	396	c.348G>A	c.(346-348)gtG>gtA	p.V116V	LILRA6_ENST00000391735.3_Silent_p.V116V|LILRB3_ENST00000407860.2_Silent_p.V116V|LILRA6_ENST00000396365.2_Silent_p.V116V|LILRA6_ENST00000245621.5_Silent_p.V116V|LILRA6_ENST00000419410.2_Silent_p.V116V|LILRA6_ENST00000270464.5_Silent_p.V116V					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACCTGTCATCACCAGCTCCA	0.642000													37	247					0	0	0.000953801	0	0
LYZL1	84569	broad.mit.edu	37	10	29599980	29599980	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr10:29599980G>A	ENST00000375500.3	+	5	634	c.577G>A	c.(577-579)Gtt>Att	p.V193I		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	147					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				AGGCTGTGAGGTTTCCTAAAC	0.522000													58	96					0	0	0.00361006	0	0
UBE3B	89910	broad.mit.edu	37	12	109921372	109921372	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:109921372C>G	ENST00000342494.3	+	3	611	c.16C>G	c.(16-18)Cag>Gag	p.Q6E	UBE3B_ENST00000434735.2_Missense_Mutation_p.Q6E|UBE3B_ENST00000537063.1_Missense_Mutation_p.Q6E|UBE3B_ENST00000280774.5_Missense_Mutation_p.Q6E|UBE3B_ENST00000540230.1_Missense_Mutation_p.Q6E|UBE3B_ENST00000536398.1_Missense_Mutation_p.Q6E|UBE3B_ENST00000340074.5_Missense_Mutation_p.Q6E	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	6					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CACCCTGTCTCAGACCTCGAG	0.517000													17	26					0	0	0.000566183	0	0
CHRNB2	1141	broad.mit.edu	37	1	154542288	154542288	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:154542288G>A	ENST00000368476.3	+	3	495	c.231G>A	c.(229-231)atG>atA	p.M77I		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	77					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	AGCAGATCATGACCACCAATG	0.582000													50	25					0	0	0.00361006	0	0
MED13L	23389	broad.mit.edu	37	12	116421180	116421180	+	Missense_Mutation	SNP	G	G	A	rs113890513	byFrequency	TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:116421180G>A	ENST00000281928.3	-	21	4903	c.4697C>T	c.(4696-4698)tCg>tTg	p.S1566L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1566	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTACTATTCGAGGTGGGATT	0.542000											OREG0022156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	41					0	0	0.00074312	0	0
VCAM1	7412	broad.mit.edu	37	1	101200264	101200264	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:101200264G>A	ENST00000294728.2	+	8	2100	c.1999G>A	c.(1999-2001)Gaa>Aaa	p.E667K	VCAM1_ENST00000370119.4_Missense_Mutation_p.E605K|VCAM1_ENST00000347652.2_Missense_Mutation_p.E575K|VCAM1_ENST00000370115.1_Missense_Mutation_p.E468K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	667	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGGAGTATATGAATGTGAATC	0.378000													8	25					0	0	0.00307968	0	0
FMNL1	752	broad.mit.edu	37	17	43320517	43320517	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:43320517C>G	ENST00000331495.3	+	17	2379	c.2043C>G	c.(2041-2043)ttC>ttG	p.F681L	FMNL1_ENST00000587489.1_Missense_Mutation_p.F259L|FMNL1_ENST00000328118.3_Missense_Mutation_p.F681L	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	681	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGGAACAGTTCAAGACCAAGT	0.607000													43	86					0	0	0.00222228	0	0
RBM8A	9939	broad.mit.edu	37	1	145509174	145509174	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:145509174G>A	ENST00000330165.8	+	6	557	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	RBM8A_ENST00000369307.3_Missense_Mutation_p.R162Q	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A						mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAGGTGGCCGAAGACGCAGC	0.502000													30	14					0	0	0.000953801	0	0
FZD1	8321	broad.mit.edu	37	7	90894640	90894640	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:90894640G>C	ENST00000287934.2	+	1	858	c.445G>C	c.(445-447)Gag>Cag	p.E149Q		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	149	FZ.				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CGCGGGCCTGGAGGTGCACCA	0.602000													24	51					0	0	0.00395357	0	0
E2F5	1875	broad.mit.edu	37	8	86089814	86089814	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr8:86089814G>A	ENST00000418930.2	+	1	355	c.159G>A	c.(157-159)aaG>aaA	p.K53K	E2F5_ENST00000416274.2_Silent_p.K53K|E2F5_ENST00000256117.5_Silent_p.K53K|RP11-219B4.3_ENST00000520129.1_RNA			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	53					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GGCACGAGAAGAGCCTGGGGC	0.751000													9	3					0	0	0.00448238	0	0
ALK	238	broad.mit.edu	37	2	29606678	29606678	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr2:29606678C>T	ENST00000389048.3	-	5	2108	c.1202G>A	c.(1201-1203)cGa>cAa	p.R401Q	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	401	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R401Q(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)	CAGGGCCACTCGAAATGGGTT	0.488000			"""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				16	23					0	0	0.000566183	0	0
XPO1	7514	broad.mit.edu	37	2	61726883	61726883	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr2:61726883C>G	ENST00000401558.2	-	7	1282	c.555G>C	c.(553-555)caG>caC	p.Q185H	XPO1_ENST00000404992.2_Missense_Mutation_p.Q185H|XPO1_ENST00000406957.1_Missense_Mutation_p.Q185H	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	185	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTTGGGTTATCTGTCCACTAG	0.323000			Mis		CLL								21	23					0	0	0.00188189	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600375	116600375	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr6:116600375C>T	ENST00000368608.3	-	1	691	c.619G>A	c.(619-621)Gag>Aag	p.E207K	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	207					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		aatctatcctcctccgccact	0.592000													17	1					0	0	0.00400662	0	0
SP7	121340	broad.mit.edu	37	12	53723111	53723111	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:53723111G>C	ENST00000536324.2	-	3	398	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V	SP7_ENST00000537210.2_Missense_Mutation_p.L21V|SP7_ENST00000303846.3_Missense_Mutation_p.L39V	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GCTTTGCCCAGAGTTGTTGAG	0.557000													56	38					0	0	0.00361006	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55062937	55062937	+	RNA	SNP	T	T	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:55062937T>C	ENST00000526016.1	-	0	700					NR_038174.2																						CAGTTCGTACTAGAGTAGCTC	0.433000													6	8					0	0	0.00116845	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102551290	102551290	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr14:102551290C>G	ENST00000334701.7	-	6	1356	c.1075G>C	c.(1075-1077)Gaa>Caa	p.E359Q	HSP90AA1_ENST00000441629.2_Missense_Mutation_p.E58Q|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.E237Q	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	237					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	tcttccttttcttcAGCCTCA	0.393000													16	7					0	0	0.00316338	0	0
JAG1	182	broad.mit.edu	37	20	10653478	10653478	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr20:10653478G>A	ENST00000254958.5	-	2	773	c.258C>T	c.(256-258)gtC>gtT	p.V86V		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	86					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCCCGGCCGTGACGCGGGACT	0.667000									Alagille Syndrome				27	55					0	0	0.00106085	0	0
TBC1D1	23216	broad.mit.edu	37	4	38097664	38097664	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr4:38097664C>T	ENST00000261439.4	+	14	2706	c.2351C>T	c.(2350-2352)tCa>tTa	p.S784L	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S878L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	784						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCAGGAAGATCAAAAATTAAG	0.433000													43	60					0	0	0.00170553	0	0
NIN	51199	broad.mit.edu	37	14	51224627	51224627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr14:51224627C>A	ENST00000245441.5	-	18	3311	c.3121G>T	c.(3121-3123)Gag>Tag	p.E1041*	NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Nonsense_Mutation_p.E1041*|NIN_ENST00000453196.1_Nonsense_Mutation_p.E1041*|NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Nonsense_Mutation_p.E1041*|NIN_ENST00000382041.3_Nonsense_Mutation_p.E1041*	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1041					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACCTCCTCCTCTCCTATCACC	0.512000			T	PDGFRB	MPD								92	58					2.18481e-45	5.4379e-45	0.00361006	1	0
STRIP2	57464	broad.mit.edu	37	7	129098206	129098206	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:129098206C>G	ENST00000249344.2	+	10	1229	c.1189C>G	c.(1189-1191)Ctg>Gtg	p.L397V	STRIP2_ENST00000435494.2_Missense_Mutation_p.L397V	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GCAGGACCCTCTGGTGCCACC	0.602000													3	6					0	0	0.000602214	0	0
GUSB	2990	broad.mit.edu	37	7	65444737	65444737	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:65444737G>A	ENST00000304895.4	-	3	688	c.558C>T	c.(556-558)atC>atT	p.I186I	GUSB_ENST00000476486.1_Intron|GUSB_ENST00000421103.1_Intron|GUSB_ENST00000345660.6_Silent_p.I186I	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	186					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TCAGGTATTGGATGGTCCCTG	0.622000													55	28					0	0	0.00361006	0	0
TLR1	7096	broad.mit.edu	37	4	38800200	38800200	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr4:38800200C>G	ENST00000308979.2	-	4	526	c.253G>C	c.(253-255)Gat>Cat	p.D85H	TLR1_ENST00000502213.2_Missense_Mutation_p.D85H	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	85					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						ACACTGATATCAAGATACTGG	0.353000													51	63					0	0	0.00361006	0	0
RB1	5925	broad.mit.edu	37	13	48953760	48953760	+	Nonsense_Mutation	SNP	C	C	T	rs121913302		TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr13:48953760C>T	ENST00000267163.4	+	14	1501	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	455	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R455*(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTGTATTACCGAGTAATGGA	0.358000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			15	5					0	0	0.00400662	0	0
GPR98	84059	broad.mit.edu	37	5	89968409	89968409	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:89968409G>A	ENST00000405460.2	+	22	4895	c.4799G>A	c.(4798-4800)aGa>aAa	p.R1600K	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1600					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGAGAACCAGAGGAGCTCTG	0.373000													20	33					0	0	0.00152264	0	0
ADAM2	2515	broad.mit.edu	37	8	39613263	39613263	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr8:39613263G>A	ENST00000265708.4	-	16	1884	c.1781C>T	c.(1780-1782)tCt>tTt	p.S594F	ADAM2_ENST00000379853.2_Missense_Mutation_p.S438F|ADAM2_ENST00000347580.4_Missense_Mutation_p.S575F|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	594	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGAACCACAAGAAGTTCCATC	0.378000													16	6					0	0	0.00316338	0	0
SLFN5	162394	broad.mit.edu	37	17	33592878	33592878	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:33592878C>T	ENST00000299977.4	+	5	2795	c.2647C>T	c.(2647-2649)Cat>Tat	p.H883Y	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	883					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GGCAAAAAGACATCTGTATAT	0.433000													23	41					0	0	0.00395357	0	0
SLC2A3	6515	broad.mit.edu	37	12	8086445	8086445	+	Silent	SNP	T	T	C	rs141677583		TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:8086445T>C	ENST00000075120.7	-	2	309	c.69A>G	c.(67-69)caA>caG	p.Q23Q		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	23					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TGTAGCCAAATTGGAAAGAGC	0.448000											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24					0	0	6.4e-05	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703343	33703343	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:33703343C>G	ENST00000253188.4	-	5	789	c.643G>C	c.(643-645)Gag>Cag	p.E215Q		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CTCAGCTCCTCGAAGTGTCCT	0.647000													6	24					0	0	0.00116845	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600899	41600899	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:41600899G>A	ENST00000330436.3	+	8	1197	c.1197G>A	c.(1195-1197)ctG>ctA	p.L399L		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	399					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCTCCGTGCTGAGAGACCCCA	0.547000													42	37					0	0	0.00222228	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798017	31798017	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr21:31798017C>T	ENST00000390690.2	-	1	269	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	72	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GGGCTGGACTCAACACACAAT	0.567000													15	33					0	0	0.00244969	0	0
COL14A1	7373	broad.mit.edu	37	8	121216072	121216072	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr8:121216072C>T	ENST00000297848.3	+	9	1272	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	COL14A1_ENST00000247781.3_Silent_p.L239L|COL14A1_ENST00000537875.1_Silent_p.L334L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.L334L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	334					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCAGGACTCTCTGCTCTAGAG	0.468000													27	15					0	0	0.00127121	0	0
RGL2	5863	broad.mit.edu	37	6	33264224	33264224	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr6:33264224G>C	ENST00000497454.1	-	5	932	c.437C>G	c.(436-438)tCt>tGt	p.S146C	RGL2_ENST00000444031.2_Missense_Mutation_p.S64C|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	146	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGTAGGATGAGATTCAAGGGC	0.517000													46	5					0	0	0.00361006	0	0
SNHG14	104472715	broad.mit.edu	37	15	25415898	25415898	+	RNA	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:25415898C>T	ENST00000553149.1	+	0	290				SNORD115-1_ENST00000364961.1_RNA																							TTATATTATCCTGAAGAGAGG	0.537000													78	163					0	0	0.00361006	0	0
MYO3A	53904	broad.mit.edu	37	10	26414413	26414413	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr10:26414413C>T	ENST00000265944.5	+	19	2156	c.1990C>T	c.(1990-1992)Cga>Tga	p.R664*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	664	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R664*(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AACAATTATACGACCCAATAC	0.418000													20	43					0	0	0.000958276	0	0
CDCP2	200008	broad.mit.edu	37	1	54610372	54610372	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:54610372C>T	ENST00000371330.1	-	2	1041	c.194G>A	c.(193-195)gGa>gAa	p.G65E	RP11-446E24.4_ENST00000525949.1_5'UTR|RP11-446E24.4_ENST00000311841.7_3'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	65	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CACCGAGGATCCCTCGGCCAC	0.562000													18	8					0	0	0.00074312	0	0
CATSPER2P1	440278	broad.mit.edu	37	15	44036339	44036339	+	RNA	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:44036339C>T	ENST00000381680.2	-	0	578					NR_002318.2																						CATACAATGTCAGTTCTCACG	0.483000													12	7					0	0	0.00136819	0	0
KLRC2	3822	broad.mit.edu	37	12	10583763	10583763	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:10583763C>T	ENST00000381902.2	-	6	655	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_Missense_Mutation_p.A158T|KLRC2_ENST00000381901.1_Missense_Mutation_p.A217T	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	217	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CCACACTGGGCTGATTTAAGT	0.323000													33	1					0	0	0.000953801	0	0
C4orf40	401137	broad.mit.edu	37	4	71024438	71024438	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr4:71024438G>C	ENST00000344526.5	+	3	658	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	C4orf40_ENST00000502294.1_Missense_Mutation_p.E157Q|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	157	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGTTGCAGCTGAGCCTGCTGC	0.642000													32	46					0	0	0.001512	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869830	22869830	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr22:22869830C>G	ENST00000302097.3	-	2	377	c.125G>C	c.(124-126)aGa>aCa	p.R42T		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTCAGCATCTCTATGTACATG	0.408000													53	51					0	0	0.00361006	0	0
DOCK9	23348	broad.mit.edu	37	13	99481705	99481705	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr13:99481705C>G	ENST00000376460.1	-	43	4832	c.4752G>C	c.(4750-4752)caG>caC	p.Q1584H	DOCK9_ENST00000339416.2_Missense_Mutation_p.Q1585H|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1585	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTCCTTCATCTGGGCGGTGG	0.552000													8	9					0	0	0.00448238	0	0
RCOR2	283248	broad.mit.edu	37	11	63681949	63681949	+	Missense_Mutation	SNP	C	C	T	rs140081088		TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:63681949C>T	ENST00000301459.4	-	6	932	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R182Q(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CACACTAGTTCGGCTGCGGGT	0.597000													62	48					0	0	0.00361006	0	0
CELA3B	23436	broad.mit.edu	37	1	22307603	22307603	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:22307603C>T	ENST00000337107.6	+	4	319	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	100	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						AGCAGGTGATCCCCATCAACT	0.637000											OREG0013210	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	51					0	0	0.00278032	0	0
MUC17	140453	broad.mit.edu	37	7	100684456	100684456	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:100684456G>A	ENST00000306151.4	+	3	9823	c.9759G>A	c.(9757-9759)ttG>ttA	p.L3253L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3253	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACACTCCTTTGACCACTTCTA	0.493000													99	113					0	0	0.00361006	0	0
ZNF551	90233	broad.mit.edu	37	19	58198719	58198719	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:58198719G>A	ENST00000282296.5	+	3	1261	c.1076G>A	c.(1075-1077)gGa>gAa	p.G359E	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.G343E|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	359				G -> E (in Ref. 1; BAC03625).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTTCACACTGGAGAAAGGCCT	0.468000													13	57					0	0	0.00185496	0	0
TRRAP	8295	broad.mit.edu	37	7	98507927	98507927	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:98507927G>A	ENST00000359863.4	+	15	1808	c.1599G>A	c.(1597-1599)aaG>aaA	p.K533K	TRRAP_ENST00000446306.3_Silent_p.K533K|TRRAP_ENST00000355540.3_Silent_p.K533K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	533					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			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)			AAGGAGAAAAGGACAAGGAAG	0.592000													16	22					0	0	0.00316338	0	0
CEP290	80184	broad.mit.edu	37	12	88496695	88496695	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:88496695C>T	ENST00000552810.1	-	26	3254	c.2911G>A	c.(2911-2913)Gaa>Aaa	p.E971K	CEP290_ENST00000397838.3_Missense_Mutation_p.E31K|CEP290_ENST00000547691.2_Missense_Mutation_p.E31K|CEP290_ENST00000309041.7_Missense_Mutation_p.E973K	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	971					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GCAGTCAGTTCATTGTACTGT	0.363000													8	7					0	0	0.00448238	0	0
GNAS	2778	broad.mit.edu	37	20	57470707	57470707	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr20:57470707G>A	ENST00000371100.4	+	2	2661	c.2109G>A	c.(2107-2109)atG>atA	p.M703I	GNAS_ENST00000371081.1_Missense_Mutation_p.M60I|GNAS_ENST00000371098.2_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.M60I|GNAS_ENST00000306090.10_Missense_Mutation_p.M60I|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.M60I|GNAS_ENST00000371085.3_Missense_Mutation_p.M60I|GNAS_ENST00000371102.4_Missense_Mutation_p.M703I|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371095.3_Missense_Mutation_p.M60I	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	60					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGAAGCAGATGAGGATCCTGC	0.428000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			49	4					0	0	0.00361006	0	0
EP400	57634	broad.mit.edu	37	12	132466883	132466883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:132466883C>T	ENST00000333577.4	+	6	2006	c.1897C>T	c.(1897-1899)Cag>Tag	p.Q633*	EP400_ENST00000389562.2_Nonsense_Mutation_p.Q596*|EP400_ENST00000332482.4_Nonsense_Mutation_p.Q560*|EP400_ENST00000330386.6_Nonsense_Mutation_p.Q597*|EP400_ENST00000389561.2_Nonsense_Mutation_p.Q597*			Q96L91	EP400_HUMAN	E1A binding protein p400	633					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGTGAAGACTCAGCAGCCCAA	0.632000													30	70					0	0	0.00127121	0	0
MCM3AP	8888	broad.mit.edu	37	21	47674319	47674319	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr21:47674319C>G	ENST00000397708.1	-	20	4377	c.4123G>C	c.(4123-4125)Gag>Cag	p.E1375Q	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1375Q			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1375					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCACAACTCTCTGGGGACTGC	0.612000													22	23					0	0	0.00188189	0	0
TRIM41	90933	broad.mit.edu	37	5	180661176	180661176	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:180661176G>T	ENST00000315073.5	+	6	2004	c.1294G>T	c.(1294-1296)Gac>Tac	p.D432Y	TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Missense_Mutation_p.D432Y	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	432	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCCAAGTGGACCTGACGCT	0.662000													16	7					1.5739e-10	3.72914e-10	0.00400662	1	0
KIAA1522	57648	broad.mit.edu	37	1	33237224	33237224	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:33237224C>T	ENST00000401073.2	+	6	2514	c.2444C>T	c.(2443-2445)cCg>cTg	p.P815L	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.P756L|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P767L	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	756	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GTCAGCTCCCCGGCTGCTTCG	0.647000													6	24					0	0	0.00116845	0	0
DLGAP4	22839	broad.mit.edu	37	20	35128618	35128618	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr20:35128618C>T	ENST00000373913.3	+	10	2587	c.2107C>T	c.(2107-2109)Cac>Tac	p.H703Y	DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Missense_Mutation_p.H703Y|DLGAP4_ENST00000340491.4_Missense_Mutation_p.H167Y|DLGAP4_ENST00000373907.2_Missense_Mutation_p.H706Y|DLGAP4_ENST00000339266.5_Missense_Mutation_p.H706Y			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	706					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGTCCCCTCTCACAGTATGTC	0.607000													36	36					0	0	0.000953801	0	0
ATP5F1	515	broad.mit.edu	37	1	111999351	111999351	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:111999351C>T	ENST00000369722.3	+	5	1093	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ATP5F1_ENST00000483994.1_Missense_Mutation_p.R102C|ATP5F1_ENST00000369721.4_3'UTR	NM_001688.4	NP_001679.2	P24539	AT5F1_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1	163					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTTCAGAAGCGCCATTACCT	0.403000													32	31					0	0	0.00375469	0	0
CDHR2	54825	broad.mit.edu	37	5	176005567	176005567	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:176005567C>T	ENST00000510636.1	+	16	2050	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	CDHR2_ENST00000506348.1_Silent_p.I592I|CDHR2_ENST00000261944.5_Silent_p.I592I	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	592	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCTACAACATCTTCGTCCAGG	0.617000													10	30					0	0	0.00185496	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577453	67577453	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr8:67577453C>G	ENST00000310421.4	-	1	1999	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	581					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCCTTACCATCCCAAAAGTGT	0.418000													118	94					0	0	0.00361006	0	0
KIF12	113220	broad.mit.edu	37	9	116854252	116854252	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:116854252C>G	ENST00000374118.3	-	16	1668	c.1431G>C	c.(1429-1431)caG>caC	p.Q477H		NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	610	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTCCAGTCTCTGGGCCAGGT	0.677000													13	12					0	0	0.00185496	0	0
RNF14	9604	broad.mit.edu	37	5	141359694	141359694	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:141359694G>C	ENST00000394520.2	+	6	1150	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	RNF14_ENST00000394515.3_Missense_Mutation_p.E105Q|RNF14_ENST00000394519.1_Missense_Mutation_p.E281Q|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394514.2_Missense_Mutation_p.E155Q|RNF14_ENST00000356143.1_Missense_Mutation_p.E281Q|RNF14_ENST00000347642.3_Missense_Mutation_p.E281Q	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	281					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	p.E281Q(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CCAGGTCAAAGAGTTAGTGGA	0.507000													34	35					0	0	0.00209593	0	0
ZNF551	90233	broad.mit.edu	37	19	58198004	58198004	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:58198004G>A	ENST00000282296.5	+	3	546	c.361G>A	c.(361-363)Gag>Aag	p.E121K	ZNF551_ENST00000596085.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Missense_Mutation_p.E105K|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCCTGCGGCTGAGCACCAAAC	0.483000													21	59					0	0	0.00188189	0	0
HIP1R	9026	broad.mit.edu	37	12	123345274	123345274	+	Silent	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:123345274C>G	ENST00000253083.4	+	28	2834	c.2709C>G	c.(2707-2709)ctC>ctG	p.L903L		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	903	I/LWEQ.|Important for actin binding.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			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)		ATGAGGAGCTCATCGTCTGCT	0.667000											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	15					0	0	0.00229938	0	0
EP300	2033	broad.mit.edu	37	22	41521961	41521961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr22:41521961C>T	ENST00000263253.7	+	3	2042	c.823C>T	c.(823-825)Cag>Tag	p.Q275*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	275					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCTCCAGATTCAGACAAAAAC	0.433000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				32	7					0	0	0.001512	0	0
STRBP	55342	broad.mit.edu	37	9	125941507	125941507	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:125941507C>T	ENST00000447404.2	-	3	308		c.e3-1		STRBP_ENST00000348403.5_Splice_Site|STRBP_ENST00000360998.3_Splice_Site			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GAATAGATCTCTGTTAGAAGG	0.368000													6	10					0	0	0.00116845	0	0
SMC1A	8243	broad.mit.edu	37	X	53432541	53432541	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chrX:53432541G>A	ENST00000322213.4	-	11	1922	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	SMC1A_ENST00000375340.6_Missense_Mutation_p.R365C	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	599	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GGCTCATAGCGAATCACATCA	0.532000													25	0					0	0	0.00465635	0	0
VCAM1	7412	broad.mit.edu	37	1	101203682	101203682	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:101203682G>C	ENST00000294728.2	+	9	2164	c.2063G>C	c.(2062-2064)aGa>aCa	p.R688T	VCAM1_ENST00000370119.4_Missense_Mutation_p.R626T|VCAM1_ENST00000347652.2_Missense_Mutation_p.R596T|VCAM1_ENST00000370115.1_Missense_Mutation_p.R489T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	688					heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTTCCAGGAAGAGAAAACAAC	0.313000													15	60					0	0	0.00316338	0	0
DIDO1	11083	broad.mit.edu	37	20	61537309	61537309	+	Silent	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr20:61537309C>A	ENST00000266070.4	-	6	1843	c.1518G>T	c.(1516-1518)gcG>gcT	p.A506A	DIDO1_ENST00000395340.1_Silent_p.A506A|DIDO1_ENST00000370371.4_Silent_p.A506A|DIDO1_ENST00000395335.2_Silent_p.A506A|DIDO1_ENST00000370368.1_Silent_p.A506A|DIDO1_ENST00000395343.1_Silent_p.A506A|DIDO1_ENST00000354665.4_Silent_p.A506A|DIDO1_ENST00000370366.1_Silent_p.A506A|DIDO1_ENST00000266071.5_Silent_p.A506A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	506					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGTGATCGCTCGCCCACGACG	0.532000													6	182					0.00198382	0.00452379	0.00198382	1	0
ZSCAN25	221785	broad.mit.edu	37	7	99217242	99217242	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:99217242C>T	ENST00000394152.2	+	4	340	c.13C>T	c.(13-15)Cat>Tat	p.H5Y	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.H5Y|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.H5Y	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		GCTTAAAGAGCATCCAGAGAT	0.522000													45	41					0	0	0.0025221	0	0
PPP2R2B	5521	broad.mit.edu	37	5	146435248	146435248	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:146435248G>T	ENST00000394414.1	-	1	342	c.54C>A	c.(52-54)ttC>ttA	p.F18L	PPP2R2B_ENST00000394410.2_Intron|PPP2R2B_ENST00000356826.3_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S20Y|PPP2R2B_ENST00000504198.1_Intron|PPP2R2B_ENST00000394409.3_Intron			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	0					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGCTGGAAGAAAGGATGGT	0.463000													11	14					2.27111e-07	5.28586e-07	0.00136819	1	0
TRPC6	7225	broad.mit.edu	37	11	101359740	101359740	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:101359740G>A	ENST00000344327.3	-	4	1645	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Silent_p.F407F|TRPC6_ENST00000360497.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	407					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GGACCACAAGGAACTTGACCG	0.478000													30	16					0	0	0.00127121	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10145993	10145993	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:10145993G>A	ENST00000450660.2	-	2	682	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	FANCD2OS_ENST00000524279.1_Silent_p.L156L	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		ATAGAGCGCAGCATCTGTTTG	0.473000													25	29					0	0	0.00395357	0	0
KANSL3	55683	broad.mit.edu	37	2	97285101	97285101	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr2:97285101C>T	ENST00000599854.1	-	5	864	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	KANSL3_ENST00000431828.1_Missense_Mutation_p.G220R|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000435669.1_Missense_Mutation_p.G133R|KANSL3_ENST00000440133.1_Missense_Mutation_p.G14R|KANSL3_ENST00000441706.2_Missense_Mutation_p.G133R	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	220																	CTTACCTTCCCCTTCAGCGTC	0.567000													7	11					0	0	0.00307968	0	0
EIF2B5	8893	broad.mit.edu	37	3	183859808	183859808	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:183859808G>C	ENST00000273783.3	+	8	1374	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	EIF2B5_ENST00000444495.1_Missense_Mutation_p.E418Q	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	418					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGACAATGCTGAGGTCAAGGA	0.552000													17	41					0	0	0.00074312	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291189	126291189	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:126291189C>A	ENST00000383572.2	-	3	676	c.198G>T	c.(196-198)aaG>aaT	p.K66N	TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.K66N	NM_001039783.1	NP_001034872.1	Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	66										endometrium(1)|large_intestine(2)|skin(2)	5						TCAGTAGTCTCTTAATCTCTT	0.557000													19	40					3.51602e-12	8.38108e-12	0.00121646	1	0
FBF1	85302	broad.mit.edu	37	17	73916101	73916101	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:73916101C>T	ENST00000586717.1	-	18	2149	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K	FBF1_ENST00000319129.5_Missense_Mutation_p.E625K|FBF1_ENST00000389570.4_Missense_Mutation_p.E626K			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	625										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TGTGCACTCTCGATGAGCTCC	0.642000													8	10					0	0	0.00307968	0	0
OR1L6	392390	broad.mit.edu	37	9	125512283	125512283	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:125512283G>A	ENST00000373684.1	+	1	265	c.265G>A	c.(265-267)Gac>Aac	p.D89N	OR1L6_ENST00000304720.2_Missense_Mutation_p.D53N			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CATCTACTCTGACCCCAGGCT	0.493000													34	47					0	0	0.00283554	0	0
GABRA1	2554	broad.mit.edu	37	5	161318038	161318038	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:161318038C>A	ENST00000428797.2	+	9	1193	c.838C>A	c.(838-840)Cca>Aca	p.P280T	GABRA1_ENST00000420560.1_Missense_Mutation_p.P280T|GABRA1_ENST00000437025.2_Missense_Mutation_p.P280T|GABRA1_ENST00000023897.6_Missense_Mutation_p.P280T|GABRA1_ENST00000393943.4_Missense_Mutation_p.P280T|GABRA1_ENST00000444819.1_Missense_Mutation_p.P280T	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	280					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AGAGTCTGTACCAGCAAGAAC	0.408000													21	28					1.55795e-14	3.74762e-14	0.00188189	1	0
NNT	23530	broad.mit.edu	37	5	43644722	43644722	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:43644722C>G	ENST00000264663.5	+	9	1329	c.1108C>G	c.(1108-1110)Cac>Gac	p.H370D	NNT_ENST00000344920.4_Missense_Mutation_p.H370D|NNT_ENST00000512996.2_Missense_Mutation_p.H239D	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	370					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGGAATTACTCACATAGGCTA	0.418000													17	22					0	0	0.00400662	0	0
RSAD2	91543	broad.mit.edu	37	2	7027268	7027268	+	Missense_Mutation	SNP	C	C	G	rs143741204		TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr2:7027268C>G	ENST00000382040.3	+	3	847	c.711C>G	c.(709-711)atC>atG	p.I237M	RSAD2_ENST00000541728.1_Missense_Mutation_p.I130M	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	237					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CGGAACAGATCAAAGCACTAA	0.403000													9	20					0	0	0.000442599	0	0
MKRN2	23609	broad.mit.edu	37	3	12616308	12616308	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:12616308C>T	ENST00000170447.7	+	5	797	c.660C>T	c.(658-660)ttC>ttT	p.F220F	MKRN2_ENST00000448482.1_Silent_p.F218F|MKRN2_ENST00000411987.1_Silent_p.F177F	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	220	Makorin-type Cys-His.					intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGTTGACGTTCGAACACGAGA	0.542000													38	48					0	0	0.00148497	0	0
JMJD1C	221037	broad.mit.edu	37	10	64966700	64966700	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr10:64966700C>G	ENST00000399262.2	-	10	4947	c.4729G>C	c.(4729-4731)Gaa>Caa	p.E1577Q	JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1395Q|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E1358Q|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1358Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1577					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			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)					TTAATAATTTCTGATACAGAA	0.313000													27	6					0	0	0.000878237	0	0
MRPL23	6150	broad.mit.edu	37	11	1973375	1973375	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:1973375C>T	ENST00000381514.3	+	3	181	c.159C>T	c.(157-159)ctC>ctT	p.L53L	MRPL23_ENST00000397297.3_Silent_p.L53L|MRPL23_ENST00000397298.3_Silent_p.L53L|MRPL23_ENST00000381519.1_Silent_p.L53L|MRPL23_ENST00000397294.3_Silent_p.L53L			Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	53					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGGTGGACCTCAGGAATTACC	0.547000													12	22					0	0	0.000978159	0	0
UBLCP1	134510	broad.mit.edu	37	5	158705341	158705341	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:158705341G>C	ENST00000296786.6	+	9	1106	c.780G>C	c.(778-780)atG>atC	p.M260I		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	260	FCP1 homology.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTTTCTAATGAACCCACAGA	0.368000													31	36					0	0	0.00283554	0	0
FGF9	2254	broad.mit.edu	37	13	22246302	22246302	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr13:22246302G>A	ENST00000382353.5	+	1	781	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	84					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		ACTATCCAGGGAACCAGGAAA	0.458000													30	50					0	0	0.00209593	0	0
NPAP1	23742	broad.mit.edu	37	15	24923370	24923370	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:24923370C>T	ENST00000329468.2	+	1	2830	c.2356C>T	c.(2356-2358)Ctc>Ttc	p.L786F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GAAAACCTCTCTCCCCAGTGC	0.552000													61	130					0	0	0.00361006	0	0
PHF12	57649	broad.mit.edu	37	17	27251024	27251024	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:27251024C>T	ENST00000577226.1	-	4	964	c.618G>A	c.(616-618)ctG>ctA	p.L206L	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000332830.4_Silent_p.L206L|PHF12_ENST00000268756.3_Silent_p.L206L			Q96QT6	PHF12_HUMAN	PHD finger protein 12	206	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AGGGCCGCCTCAGCTGGGGCT	0.562000													16	13					0	0	0.00400662	0	0
COL6A6	131873	broad.mit.edu	37	3	130285937	130285937	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:130285937C>A	ENST00000358511.6	+	4	1705	c.1674C>A	c.(1672-1674)aaC>aaA	p.N558K	COL6A6_ENST00000453409.2_Missense_Mutation_p.N558K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	558	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGCCTGCAAACAGACTGAGAG	0.463000													37	53					7.53189e-24	1.84555e-23	0.00170553	1	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													12	0					0	0	0.00185496	0	0
MSLNL	401827	broad.mit.edu	37	16	830500	830500	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr16:830500G>A	ENST00000293892.3	-	3	500	c.501C>T	c.(499-501)caC>caT	p.H167H	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGGCACGCATGTGTAGGTGAC	0.562000													81	13					0	0	0.00361006	0	0
CLK2	1196	broad.mit.edu	37	1	155233800	155233800	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:155233800C>G	ENST00000368361.4	-	12	1573	c.1258G>C	c.(1258-1260)Gat>Cat	p.D420H	CLK2_ENST00000355560.4_Missense_Mutation_p.D418H|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.D419H|CLK2_ENST00000536801.1_Missense_Mutation_p.D420H			P49760	CLK2_HUMAN	CDC-like kinase 2	420	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCATCCCAATCCAGGCGACCC	0.522000								Other conserved DNA damage response genes					26	127					0	0	0.001512	0	0
RASIP1	54922	broad.mit.edu	37	19	49230267	49230267	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:49230267C>G	ENST00000222145.4	-	7	2224	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	674	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		AGCTCACCCTCTTGGTCAGCC	0.597000													39	17					0	0	0.00170553	0	0
CXXC1	30827	broad.mit.edu	37	18	47812480	47812480	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr18:47812480G>A	ENST00000285106.6	-	4	1085	c.371C>T	c.(370-372)tCa>tTa	p.S124L	CXXC1_ENST00000589940.1_Missense_Mutation_p.S124L|CXXC1_ENST00000412036.2_Missense_Mutation_p.S124L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	124					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTGTCCCTGACCCTGCCCG	0.682000													38	67					0	0	0.00428921	0	0
LRRC17	10234	broad.mit.edu	37	7	102574390	102574390	+	Silent	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:102574390C>G	ENST00000249377.4	+	2	311	c.30C>G	c.(28-30)ctC>ctG	p.L10L	FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000339431.4_Silent_p.L10L|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000455112.2_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	10					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TAATCTTGCTCTGCTTTTGCA	0.532000													6	10					0	0	0.00116845	0	0
LEKR1	389170	broad.mit.edu	37	3	156711062	156711062	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:156711062G>A	ENST00000470811.1	+	10	1528	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	LEKR1_ENST00000356539.4_Missense_Mutation_p.E369K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	74										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTGAAAAATGAAAGGTGCAG	0.294000													8	19					0	0	0.00307968	0	0
SLC38A2	54407	broad.mit.edu	37	12	46756099	46756099	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:46756099T>G	ENST00000256689.5	-	15	1834	c.1390A>C	c.(1390-1392)Aaa>Caa	p.K464Q	SLC38A2_ENST00000551374.1_Missense_Mutation_p.K302Q	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	464					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATAGGTTCTTTCTTCACCAAC	0.313000													3	3					0	0	0.00024832	0	0
KDM2B	84678	broad.mit.edu	37	12	121932456	121932456	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:121932456C>G	ENST00000377069.4	-	12	1973	c.1567G>C	c.(1567-1569)Gag>Cag	p.E523Q	KDM2B_ENST00000377071.4_Missense_Mutation_p.E554Q|KDM2B_ENST00000538046.2_Missense_Mutation_p.E464Q|KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000536437.1_Missense_Mutation_p.E437Q	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	554					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTGCGTGCTCCTTCAGGACG	0.557000											OREG0022202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	10					0	0	0.00307968	0	0
NECAP2	55707	broad.mit.edu	37	1	16767305	16767305	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:16767305C>T	ENST00000337132.5	+	1	139	c.49C>T	c.(49-51)Cac>Tac	p.H17Y	NECAP2_ENST00000457722.2_Intron|NECAP2_ENST00000443980.2_Missense_Mutation_p.H17Y|NECAP2_ENST00000504551.2_Missense_Mutation_p.H17Y|NECAP2_ENST00000406746.1_Missense_Mutation_p.H17Y|NECAP2_ENST00000486390.1_3'UTR	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	17					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTGACGTCCACGTCTACCG	0.632000											OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	20					0	0	0.00116845	0	0
DONSON	29980	broad.mit.edu	37	21	34954538	34954538	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr21:34954538G>C	ENST00000453626.1	-	6	983	c.979C>G	c.(979-981)Ctg>Gtg	p.L327V	DONSON_ENST00000303113.6_Missense_Mutation_p.L313V|DONSON_ENST00000432378.1_Missense_Mutation_p.L327V|DONSON_ENST00000303071.5_Missense_Mutation_p.L327V			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	327					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						ATTAAAGGCAGAGAAAATTCA	0.323000													26	19					0	0	0.00332997	0	0
BTF3L4	91408	broad.mit.edu	37	1	52530608	52530608	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:52530608G>C	ENST00000313334.8	+	3	434	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	BTF3L4_ENST00000489308.2_Missense_Mutation_p.E56Q|BTF3L4_ENST00000484036.1_Missense_Mutation_p.E56Q|BTF3L4_ENST00000472944.2_5'UTR|BTF3L4_ENST00000533836.1_3'UTR	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	56	NAC-A/B.									endometrium(2)|kidney(1)|large_intestine(2)	5						TGGTATTGAAGAGGTATGATC	0.358000													8	6					0	0	0.00448238	0	0
PRC1	9055	broad.mit.edu	37	15	91517446	91517446	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:91517446C>G	ENST00000361188.5	-	11	2592	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q	PRC1_ENST00000394249.3_Missense_Mutation_p.E461Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.E461Q|PRC1_ENST00000442656.2_Missense_Mutation_p.E420Q			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	461	Spectrin-fold.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TACAGCATCTCTGTCTCTGTC	0.512000													44	27					0	0	0.00361006	0	0
RASA3	22821	broad.mit.edu	37	13	114762072	114762072	+	Silent	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr13:114762072C>A	ENST00000334062.7	-	21	2197	c.2076G>T	c.(2074-2076)ctG>ctT	p.L692L	RASA3_ENST00000389544.4_Silent_p.L660L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	692					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AGTGGCCGCTCAGGTAGGCGG	0.647000													24	19					2.70639e-06	6.26201e-06	0.00229938	1	0
CSRP2BP	57325	broad.mit.edu	37	20	18139778	18139778	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr20:18139778G>C	ENST00000435364.3	+	4	892	c.551G>C	c.(550-552)gGa>gCa	p.G184A	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.G184A|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.G56A	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CTCAGCGTGGGAAGTCCCATG	0.473000													11	40					0	0	0.000673444	0	0
GALNT7	51809	broad.mit.edu	37	4	174090010	174090010	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr4:174090010C>G	ENST00000265000.4	+	1	107	c.24C>G	c.(22-24)atC>atG	p.I8M	GALNT7_ENST00000512285.1_Missense_Mutation_p.I8M|RP11-10K16.1_ENST00000500914.2_RNA|RP11-10K16.1_ENST00000510523.1_RNA|RP11-10K16.1_ENST00000499322.2_RNA	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	8					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TTGGGTTCATCTTACGCAGTT	0.662000													5	19					0	0	0.000602214	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671269	131671269	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:131671269C>T	ENST00000259324.5	+	3	2349	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	LRRC8A_ENST00000372600.4_Missense_Mutation_p.S609F|LRRC8A_ENST00000372599.3_Missense_Mutation_p.S609F	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	609					pre-B cell differentiation	integral to membrane		p.S609C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						ATCCCCCACTCCATCTTCAGC	0.567000													25	32					0	0	0.00332997	0	0
CNTRL	11064	broad.mit.edu	37	9	123911080	123911080	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:123911080C>G	ENST00000373855.1	+	24	3850	c.3590C>G	c.(3589-3591)tCa>tGa	p.S1197*	CNTRL_ENST00000238341.5_Nonsense_Mutation_p.S1197*|CNTRL_ENST00000373850.1_Nonsense_Mutation_p.S645*|CNTRL_ENST00000373847.1_Nonsense_Mutation_p.S645*			Q7Z7A1	CNTRL_HUMAN	centriolin	1197					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CCCCCTGCCTCAGGATACTGG	0.498000													16	18					0	0	0.00400662	0	0
ACTN3	89	broad.mit.edu	37	11	66330698	66330698	+	RNA	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:66330698G>A	ENST00000513398.1	+	0	2837				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GCAAGATGGAGAGAGGATGCA	0.582000													11	19					0	0	0.00185496	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													4	84					0	0	0.00198382	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													3	42					0	0	6.4e-05	0	0
DGCR14	8220	broad.mit.edu	37	22	19122640	19122640	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr22:19122640C>T	ENST00000252137.6	-	9	1127	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	362					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GCAGCGGCCTCGTTGGCCATC	0.662000													38	69					0	0	0.00170553	0	0
CHI3L2	1117	broad.mit.edu	37	1	111784890	111784890	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:111784890C>G	ENST00000445067.2	+	12	1848	c.1077C>G	c.(1075-1077)atC>atG	p.I359M	CHI3L2_ENST00000524472.1_Missense_Mutation_p.I280M|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000466741.1_Missense_Mutation_p.I280M|CHI3L2_ENST00000369748.4_Missense_Mutation_p.I359M|CHI3L2_ENST00000369744.2_Missense_Mutation_p.I349M			Q15782	CH3L2_HUMAN	chitinase 3-like 2	359					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GAGCCATGATCTGGTCTATTG	0.498000													23	46					0	0	0.00278032	0	0
UBR4	23352	broad.mit.edu	37	1	19411123	19411123	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:19411123G>C	ENST00000375267.2	-	102	14886	c.14883C>G	c.(14881-14883)atC>atG	p.I4961M	UBR4_ENST00000543981.1_Missense_Mutation_p.I625M|UBR4_ENST00000375217.2_Missense_Mutation_p.I4954M|UBR4_ENST00000375224.1_Missense_Mutation_p.I668M|UBR4_ENST00000429347.2_Missense_Mutation_p.I484M|UBR4_ENST00000375226.2_Missense_Mutation_p.I4937M|UBR4_ENST00000375254.3_Missense_Mutation_p.I4961M			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4961					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGAGCAGTTTGATGTCATGGA	0.552000													17	11					0	0	0.000958276	0	0
TMEM55A	55529	broad.mit.edu	37	8	92052944	92052944	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr8:92052944G>C	ENST00000285419.3	-	1	348	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	12						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GCTGACAGCAGAGGCGAGCGT	0.657000													26	28					0	0	0.000878237	0	0
KRT84	3890	broad.mit.edu	37	12	52775216	52775216	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:52775216C>T	ENST00000257951.3	-	5	1072	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	336	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTTGACCTCAGCAATGATC	0.577000													79	66					0	0	0.00361006	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671342	131671342	+	Silent	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:131671342C>A	ENST00000259324.5	+	3	2422	c.1899C>A	c.(1897-1899)atC>atA	p.I633I	LRRC8A_ENST00000372600.4_Silent_p.I633I|LRRC8A_ENST00000372599.3_Silent_p.I633I	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	633					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGGAGATCATCAGCTTCCAGC	0.577000													14	18					0.00185496	0.00424221	0.00185496	1	0
ZNF263	10127	broad.mit.edu	37	16	3339669	3339669	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr16:3339669C>G	ENST00000219069.5	+	6	2039	c.1163C>G	c.(1162-1164)tCt>tGt	p.S388C	ZNF263_ENST00000538765.1_Missense_Mutation_p.S36C|ZNF263_ENST00000574253.1_Missense_Mutation_p.L222V	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	388					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AAAAATTTCTCTAACAACTCA	0.488000													42	9					0	0	0.00285205	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38645343	38645343	+	RNA	SNP	C	C	T	rs75687299	by1000genomes	TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr10:38645343C>T	ENST00000494540.1	+	0	36					NR_003086.1																						AAAGCAGCGGCGGCGTTTGCT	0.597000													6	13					0	0	0.000442599	0	0
ZNF800	168850	broad.mit.edu	37	7	127013513	127013513	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:127013513G>A	ENST00000393313.1	-	5	2468	c.1877C>T	c.(1876-1878)gCa>gTa	p.A626V	ZNF800_ENST00000265827.3_Missense_Mutation_p.A626V|ZNF800_ENST00000485577.1_5'UTR|ZNF800_ENST00000393312.1_Missense_Mutation_p.A626V			Q2TB10	ZN800_HUMAN	zinc finger protein 800	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTTGGCAAATGCCTTTCCACA	0.363000													18	14					0	0	0.00121646	0	0
DNAH5	1767	broad.mit.edu	37	5	13751269	13751269	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:13751269C>T	ENST00000265104.4	-	65	11233	c.11129G>A	c.(11128-11130)cGt>cAt	p.R3710H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3710	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATGGAGGTACGGGCACTTAT	0.478000									Kartagener syndrome				30	40					0	0	0.00127121	0	0
FCGBP	8857	broad.mit.edu	37	19	40368625	40368625	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:40368625G>A	ENST00000221347.6	-	28	12730	c.12723C>T	c.(12721-12723)atC>atT	p.I4241I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4241	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCCGCCCCAGATGGGTATGG	0.637000													34	136					0	0	0.00148497	0	0
NRXN2	9379	broad.mit.edu	37	11	64416272	64416272	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:64416272C>T	ENST00000265459.6	-	16	3678	c.3217G>A	c.(3217-3219)Gga>Aga	p.G1073R	NRXN2_ENST00000377559.3_Missense_Mutation_p.G1033R|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.G1066R|NRXN2_ENST00000377551.1_Missense_Mutation_p.G1073R	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1073	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGAGACGTCCGTTGAGGTCC	0.627000													25	39					0	0	0.00465635	0	0
TAOK3	51347	broad.mit.edu	37	12	118671555	118671555	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:118671555C>T	ENST00000392533.3	-	9	1057	c.567G>A	c.(565-567)gtG>gtA	p.V189V	TAOK3_ENST00000419821.2_Silent_p.V189V	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	189	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGCTAAGATCACCTCTGGAG	0.363000													28	19					0	0	0.00209593	0	0
ITGA1	3672	broad.mit.edu	37	5	52216207	52216207	+	Missense_Mutation	SNP	G	G	A	rs140779034		TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:52216207G>A	ENST00000282588.6	+	17	2659	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	734					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			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)				CAAATATCACGAAGTTTTTTC	0.338000													15	15					0	0	0.00074312	0	0
TP53	7157	broad.mit.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:7578290C>T	ENST00000420246.2	-	6	692		c.e6-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		GGGGCCAGACCTAAGAGCAAT	0.552000		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)			39	3					0	0	0.00148497	0	0
LRFN5	145581	broad.mit.edu	37	14	42356711	42356711	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr14:42356711G>C	ENST00000554171.1	+	5	3315	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	LRFN5_ENST00000298119.4_Missense_Mutation_p.E295Q|LRFN5_ENST00000554120.1_Missense_Mutation_p.E295Q			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	295	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCATACACATGAGATGAGAGT	0.493000										HNSCC(30;0.082)			44	43					0	0	0.00195071	0	0
DNAJC13	23317	broad.mit.edu	37	3	132172488	132172488	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:132172488G>T	ENST00000260818.6	+	8	1038	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	264							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATGTTTAGTAGAACGTGATCC	0.299000													41	50					2.43139e-17	5.88457e-17	0.00361006	1	0
ITGAM	3684	broad.mit.edu	37	16	31282368	31282368	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr16:31282368C>G	ENST00000544665.3	+	6	592	c.521C>G	c.(520-522)tCa>tGa	p.S174*	ITGAM_ENST00000287497.8_Nonsense_Mutation_p.S174*	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	174	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAGTTTGTCTCAACTGTGATG	0.517000													40	14					0	0	0.00128727	0	0
MYO18A	399687	broad.mit.edu	37	17	27424304	27424304	+	Silent	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:27424304G>C	ENST00000527372.1	-	27	4347	c.4167C>G	c.(4165-4167)ctC>ctG	p.L1389L	MYO18A_ENST00000531253.1_Silent_p.L1389L|MYO18A_ENST00000354329.4_Silent_p.L1389L|MYO18A_ENST00000533112.1_Silent_p.L1389L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1389					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			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)			ACTCCTGCTGGAGCCGTTTCT	0.632000													22	23					0	0	0.00152264	0	0
CNTN5	53942	broad.mit.edu	37	11	100141883	100141883	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:100141883G>A	ENST00000524871.1	+	18	2514	c.2224G>A	c.(2224-2226)Gtg>Atg	p.V742M	CNTN5_ENST00000418526.2_Missense_Mutation_p.V668M|CNTN5_ENST00000528682.1_Missense_Mutation_p.V742M|CNTN5_ENST00000527185.1_Missense_Mutation_p.V742M|CNTN5_ENST00000279463.3_Missense_Mutation_p.V742M|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	742	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAATCCCTGGGTGGAATATGA	0.453000													4	34					0	0	0.000602214	0	0
BTBD11	121551	broad.mit.edu	37	12	108006637	108006637	+	Silent	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:108006637G>C	ENST00000280758.5	+	6	2418	c.1890G>C	c.(1888-1890)ctG>ctC	p.L630L	BTBD11_ENST00000420571.2_Silent_p.L630L|BTBD11_ENST00000490090.2_Silent_p.L630L|BTBD11_ENST00000357167.4_Silent_p.L167L|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	630						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GAGCTGACCTGAATGTGGAGG	0.617000													14	7					0	0	0.00074312	0	0
BCL2L10	10017	broad.mit.edu	37	15	52404621	52404621	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:52404621C>T	ENST00000260442.3	-	1	351	c.303G>A	c.(301-303)gtG>gtA	p.V101V	BCL2L10_ENST00000561198.1_Silent_p.V101V	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	91					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CTGCGAAGGTCACGAGCGTCA	0.697000													4	15					0	0	0.00024832	0	0
SACS	26278	broad.mit.edu	37	13	23905211	23905211	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr13:23905211G>A	ENST00000382298.3	-	10	13392	c.12804C>T	c.(12802-12804)ttC>ttT	p.F4268F	SACS_ENST00000382292.3_Silent_p.F4268F|SACS_ENST00000402364.1_Silent_p.F3518F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4268					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGGGGTGAGGAACTCAGTGG	0.463000													20	20					0	0	0.00152264	0	0
CCDC57	284001	broad.mit.edu	37	17	80059629	80059629	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:80059629G>A	ENST00000389641.4	-	18	2716	c.2680C>T	c.(2680-2682)Cgg>Tgg	p.R894W	CCDC57_ENST00000392347.1_Missense_Mutation_p.R894W			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	894										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GGATGAGACCGGGAGGCTCCT	0.607000													5	75					0	0	0.000602214	0	0
SLA2	84174	broad.mit.edu	37	20	35261991	35261991	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr20:35261991C>G	ENST00000262866.4	-	4	655	c.233G>C	c.(232-234)aGa>aCa	p.R78T	SLA2_ENST00000360672.2_Missense_Mutation_p.R78T	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	78	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GTTATACTCTCTGCCTGAGAC	0.592000													67	47					0	0	0.00361006	0	0
PIGC	5279	broad.mit.edu	37	1	172411753	172411753	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:172411753G>C	ENST00000367728.1	-	1	1473	c.10C>G	c.(10-12)Caa>Gaa	p.Q4E	PIGC_ENST00000258324.1_Missense_Mutation_p.Q4E|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.Q4E|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	4					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GTCACAGGTTGAGCATACATT	0.458000													33	22					0	0	0.00283554	0	0
CCDC141	285025	broad.mit.edu	37	2	179730512	179730512	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr2:179730512C>G	ENST00000420890.2	-	17	2823	c.2706G>C	c.(2704-2706)atG>atC	p.M902I	CCDC141_ENST00000295723.5_Missense_Mutation_p.M327I	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	327							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTCGTCTCTCATGGCGCAGT	0.522000													93	15					0	0	0.00361006	0	0
FAT3	120114	broad.mit.edu	37	11	92534424	92534424	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:92534424G>A	ENST00000298047.6	+	9	8262	c.8245G>A	c.(8245-8247)Gaa>Aaa	p.E2749K	FAT3_ENST00000525166.1_Missense_Mutation_p.E2599K|FAT3_ENST00000409404.2_Missense_Mutation_p.E2749K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2749	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAACGGCCAGAAAATAACAA	0.468000										TCGA Ovarian(4;0.039)			6	14					0	0	0.00116845	0	0
S1PR4	8698	broad.mit.edu	37	19	3179294	3179294	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:3179294C>T	ENST00000246115.3	+	1	559	c.504C>T	c.(502-504)ctC>ctT	p.L168L	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	168					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TCATCGGCCTCTGCTGGCTGC	0.677000													68	9					0	0	0.00361006	0	0
KDM3B	51780	broad.mit.edu	37	5	137763680	137763680	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:137763680G>A	ENST00000314358.5	+	20	4858	c.4658G>A	c.(4657-4659)aGa>aAa	p.R1553K	KDM3B_ENST00000394866.1_Missense_Mutation_p.R1209K|KDM3B_ENST00000542866.1_Missense_Mutation_p.R585K	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1553	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAAGATAGAAGAGTTGGTACA	0.423000													62	87					0	0	0.00361006	0	0
MFSD2A	84879	broad.mit.edu	37	1	40431188	40431188	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:40431188G>A	ENST00000372809.5	+	5	705	c.562G>A	c.(562-564)Gag>Aag	p.E188K	MFSD2A_ENST00000372811.5_Missense_Mutation_p.E175K|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Missense_Mutation_p.E19K	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	188					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATCAGCACCGAGCAGACTGA	0.592000													53	39					0	0	0.00361006	0	0
LAMC3	10319	broad.mit.edu	37	9	133951317	133951317	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:133951317G>C	ENST00000361069.4	+	21	3727	c.3594G>C	c.(3592-3594)agG>agC	p.R1198S	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1198	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			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)		TGGAGGGAAGGGTGGCCCTAG	0.642000													6	7					0	0	0.00116845	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2017164	2017164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:2017164C>A	ENST00000382722.5	-	5	888	c.526G>T	c.(526-528)Gag>Tag	p.E176*	CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.E176*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.E176*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.E176*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.E112*|CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.E112*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	176						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TTGCCCTTCTCGTCCCTCTCG	0.627000													37	19					3.43241e-23	8.38444e-23	0.00222228	1	0
PCDHB4	56131	broad.mit.edu	37	5	140502999	140502999	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:140502999C>G	ENST00000194152.1	+	1	1419	c.1419C>G	c.(1417-1419)agC>agG	p.S473R		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		473	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGTGTCAGCGCCACAGACA	0.657000													88	129					0	0	0.00361006	0	0
UCHL5	51377	broad.mit.edu	37	1	192992088	192992088	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:192992088C>T	ENST00000367455.4	-	9	1049	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	UCHL5_ENST00000367451.4_Missense_Mutation_p.E298K|UCHL5_ENST00000367448.1_Missense_Mutation_p.E271K|UCHL5_ENST00000367454.1_Missense_Mutation_p.E271K|UCHL5_ENST00000367452.4_Missense_Mutation_p.E147K|UCHL5_ENST00000367449.1_Missense_Mutation_p.E271K|UCHL5_ENST00000530098.2_Missense_Mutation_p.E148K	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5						DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						ACTTCTTCTTCAATAAGCATC	0.323000													29	29					0	0	0.00106085	0	0
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; 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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)		GGCAAAACATCTTGTTGAGGG	0.562000		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)			29	1					0	0	0.00178596	0	0
ANKZF1	55139	broad.mit.edu	37	2	220097343	220097343	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr2:220097343C>G	ENST00000323348.5	+	5	670	c.496C>G	c.(496-498)Ctt>Gtt	p.L166V	ANKZF1_ENST00000410034.3_Missense_Mutation_p.L166V|ANKZF1_ENST00000409849.1_5'UTR	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	166						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCGAGTTCTTTTCCAGAA	0.547000													29	6					0	0	0.00178596	0	0
HRNR	388697	broad.mit.edu	37	1	152187647	152187647	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:152187647G>C	ENST00000368801.2	-	3	6533	c.6458C>G	c.(6457-6459)tCa>tGa	p.S2153*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2153					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACGAACCTGAGCTAGATCC	0.602000													203	2674					0	0	0.00361006	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142542441	142542441	+	Silent	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:142542441C>A	ENST00000295992.3	-	7	1188	c.882G>T	c.(880-882)gtG>gtT	p.V294V	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	294						extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GACACAAGGCCACGGTGGGTT	0.358000													17	30					8.00594e-06	1.84698e-05	0.000958276	1	0
BSN	8927	broad.mit.edu	37	3	49698132	49698132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:49698132G>T	ENST00000296452.4	+	6	8968	c.8854G>T	c.(8854-8856)Gag>Tag	p.E2952*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2952					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCGGCTGGTGGAGCATGAGTC	0.627000													12	21					2.80697e-09	6.59138e-09	0.000978159	1	0
CDH16	1014	broad.mit.edu	37	16	66947138	66947138	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr16:66947138G>A	ENST00000299752.4	-	9	1143	c.950C>T	c.(949-951)gCg>gTg	p.A317V	CDH16_ENST00000565796.1_Missense_Mutation_p.A317V|CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V|CDH16_ENST00000568632.1_Missense_Mutation_p.A220V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	317	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A317V(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CAGAGGGGCCGCATAGTCCTC	0.622000													4	70					0	0	0.000602214	0	0
VCAM1	7412	broad.mit.edu	37	1	101196923	101196923	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:101196923G>A	ENST00000294728.2	+	6	1475	c.1374G>A	c.(1372-1374)atG>atA	p.M458I	VCAM1_ENST00000370119.4_Missense_Mutation_p.M396I|VCAM1_ENST00000347652.2_Missense_Mutation_p.M366I|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	458	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATACGGATATGAAATCTCTAG	0.413000													13	29					0	0	0.00185496	0	0
SOX5	6660	broad.mit.edu	37	12	23887679	23887679	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:23887679C>G	ENST00000546136.1	-	5	712	c.710G>C	c.(709-711)aGa>aCa	p.R237T	SOX5_ENST00000537393.1_Missense_Mutation_p.R215T|SOX5_ENST00000381381.2_Missense_Mutation_p.R237T|SOX5_ENST00000309359.1_Missense_Mutation_p.R237T|SOX5_ENST00000451604.2_Missense_Mutation_p.R250T|SOX5_ENST00000545921.1_Missense_Mutation_p.R240T|SOX5_ENST00000541536.1_Missense_Mutation_p.R237T			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	250					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGCTGCTGTCTTGCAATCTG	0.353000													7	19					0	0	0.00307968	0	0
FBF1	85302	broad.mit.edu	37	17	73916369	73916369	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:73916369C>G	ENST00000586717.1	-	17	2047	c.1774G>C	c.(1774-1776)Gag>Cag	p.E592Q	FBF1_ENST00000319129.5_Missense_Mutation_p.E591Q|FBF1_ENST00000389570.4_Missense_Mutation_p.E592Q			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	591										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GCCTCCAGCTCTGCCAGCCGG	0.667000													9	14					0	0	0.000442599	0	0
TECPR1	25851	broad.mit.edu	37	7	97870221	97870221	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:97870221C>T	ENST00000447648.2	-	8	1174	c.875G>A	c.(874-876)gGg>gAg	p.G292E	TECPR1_ENST00000542604.1_Missense_Mutation_p.G222E|TECPR1_ENST00000379795.3_Missense_Mutation_p.G292E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	292						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTGCATGACCCCGTTTTCAGA	0.622000													6	1					0	0	0.00198382	0	0
RGL2	5863	broad.mit.edu	37	6	33261808	33261808	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr6:33261808C>T	ENST00000444031.2	-	11	1287	c.1143G>A	c.(1141-1143)gtG>gtA	p.V381V	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_Intron|RGL2_ENST00000497454.1_Intron			O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	462	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ACACTCCGCTCACCTTCCTCC	0.527000													210	13					0	0	0.00361006	0	0
KDM4C	23081	broad.mit.edu	37	9	6984286	6984286	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:6984286C>T	ENST00000381309.3	+	10	1801	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	KDM4C_ENST00000381306.3_Silent_p.V412V|KDM4C_ENST00000543771.1_Silent_p.V412V|KDM4C_ENST00000428870.2_Silent_p.V99V|KDM4C_ENST00000442236.2_Silent_p.V231V|KDM4C_ENST00000535193.1_Silent_p.V434V|KDM4C_ENST00000536108.1_Silent_p.V231V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	412					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ACCTCAAGGTCAGTGAAAAGT	0.498000													12	12					0	0	0.000978159	0	0
ZNF174	7727	broad.mit.edu	37	16	3452036	3452036	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr16:3452036C>G	ENST00000268655.4	+	1	617	c.32C>G	c.(31-33)tCc>tGc	p.S11C	ZNF174_ENST00000571936.1_Missense_Mutation_p.S11C|ZNF174_ENST00000572544.1_Missense_Mutation_p.S11C|ZNF174_ENST00000575752.1_Missense_Mutation_p.S11C|ZNF174_ENST00000344823.5_Missense_Mutation_p.S11C	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	11					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						ACTTTAAGCTCCAACACTGAA	0.478000													80	18					0	0	0.00361006	0	0
RBL1	5933	broad.mit.edu	37	20	35724307	35724307	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr20:35724307C>T	ENST00000373664.3	-	1	91	c.25G>A	c.(25-27)Gag>Aag	p.E9K	RBL1_ENST00000344359.3_Missense_Mutation_p.E9K|RBL1_ENST00000598590.1_Missense_Mutation_p.S40L	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	9					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GCCGCCCCCTCAGCGTGGGGC	0.721000													5	18					0	0	0.00198382	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40665986	40665986	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:40665986C>T	ENST00000343619.4	+	20	2361	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L	ATP6V0A1_ENST00000537728.1_Silent_p.L697L|ATP6V0A1_ENST00000264649.6_Silent_p.L747L|ATP6V0A1_ENST00000585525.1_Silent_p.L703L|ATP6V0A1_ENST00000393829.2_Silent_p.L740L|ATP6V0A1_ENST00000544137.1_Silent_p.L392L|ATP6V0A1_ENST00000546249.1_Silent_p.L746L	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	746					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CCCTCAGCCTCGCTCATGCGC	0.592000													81	76					0	0	0.00361006	0	0
CSMD2	114784	broad.mit.edu	37	1	34052107	34052107	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:34052107C>T	ENST00000373381.4	-	46	7224	c.7048G>A	c.(7048-7050)Gaa>Aaa	p.E2350K		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2352	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAATTACCTTCACATATCGGG	0.488000													5	13					0	0	0.000602214	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97949589	97949589	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:97949589G>T	ENST00000005260.8	-	4	451	c.236C>A	c.(235-237)tCa>tAa	p.S79*	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	79	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGGTACTTGAAATCTCTAT	0.368000													11	6					2.80697e-09	6.59138e-09	0.000978159	1	0
PXDNL	137902	broad.mit.edu	37	8	52321569	52321569	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr8:52321569C>T	ENST00000356297.4	-	17	2715	c.2615G>A	c.(2614-2616)gGc>gAc	p.G872D	PXDNL_ENST00000543296.1_Missense_Mutation_p.G872D	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	872					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGAGGGACGGCCGCTGGCACA	0.657000													22	49					0	0	0.00188189	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670664	131670664	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:131670664C>T	ENST00000259324.5	+	3	1744	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	LRRC8A_ENST00000372600.4_Silent_p.L407L|LRRC8A_ENST00000372599.3_Silent_p.L407L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	407					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCTGAACCTCAACAACGAGT	0.587000													21	24					0	0	0.00121646	0	0
SPNS3	201305	broad.mit.edu	37	17	4356419	4356419	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:4356419C>G	ENST00000355530.2	+	8	1312	c.1032C>G	c.(1030-1032)atC>atG	p.I344M	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.I217M	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	344					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGCCCCTCATCTGCGCCTCCA	0.612000													117	17					0	0	0.00361006	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95481376	95481376	+	RNA	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr2:95481376C>T	ENST00000432432.2	-	0	1984					NR_040113.1																						TTTCTGTTTTCACACTTTCAC	0.358000													39	55					0	0	0.00111076	0	0
SSPO	23145	broad.mit.edu	37	7	149491884	149491884	+	RNA	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:149491884G>C	ENST00000378016.2	+	0	6085							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCACAGGAGAGAACCAGAC	0.602000													10	28					0	0	0.000673444	0	0
UVRAG	7405	broad.mit.edu	37	11	75672572	75672572	+	Silent	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:75672572C>G	ENST00000356136.3	+	7	919	c.678C>G	c.(676-678)ctC>ctG	p.L226L	UVRAG_ENST00000528420.1_Silent_p.L125L|UVRAG_ENST00000533454.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	226					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AACTAAGACTCACATCTACAA	0.323000													12	19					0	0	0.00185496	0	0
OR5F1	338674	broad.mit.edu	37	11	55761236	55761236	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:55761236A>C	ENST00000278409.1	-	1	865	c.866T>G	c.(865-867)aTc>aGc	p.I289S		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GAGGCTGTAGATCAGAGGATT	0.423000													14	21					0	0	0.000566183	0	0
TAGLN2	8407	broad.mit.edu	37	1	159888643	159888643	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:159888643C>T	ENST00000368097.4	-	5	857	c.547G>A	c.(547-549)Ggg>Agg	p.G183R	TAGLN2_ENST00000368096.1_Missense_Mutation_p.G204R|TAGLN2_ENST00000320307.4_Missense_Mutation_p.G183R|TAGLN2_ENST00000478033.1_5'UTR	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	183					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAGACGCCCCGCGGTTGGTG	0.577000													82	21					0	0	0.00361006	0	0
DAAM2	23500	broad.mit.edu	37	6	39828734	39828734	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr6:39828734G>A	ENST00000538976.1	+	3	381	c.199G>A	c.(199-201)Gag>Aag	p.E67K	DAAM2_ENST00000398904.2_Missense_Mutation_p.E67K|DAAM2_ENST00000274867.4_Missense_Mutation_p.E67K|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000405961.3_Missense_Mutation_p.E67K	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	67	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAAAAACCGAGAGGCTATGTT	0.478000													6	16					0	0	0.00116845	0	0
SPTBN4	57731	broad.mit.edu	37	19	41019439	41019439	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:41019439G>A	ENST00000352632.3	+	14	2829	c.2743G>A	c.(2743-2745)Gac>Aac	p.D915N	SPTBN4_ENST00000598249.1_Missense_Mutation_p.D915N|SPTBN4_ENST00000344104.3_Missense_Mutation_p.D915N|SPTBN4_ENST00000338932.3_Missense_Mutation_p.D915N|SPTBN4_ENST00000595535.1_Missense_Mutation_p.D915N			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	915					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCACTCGACGACGTCGAGGT	0.617000													8	4					0	0	0.00307968	0	0
CASC5	57082	broad.mit.edu	37	15	40933206	40933206	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:40933206C>G	ENST00000346991.5	+	15	6247	c.5857C>G	c.(5857-5859)Cgt>Ggt	p.R1953G	CASC5_ENST00000399668.2_Missense_Mutation_p.R1927G			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1953	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTGTGAGGCTCGTCGCCAAAA	0.373000													23	43					0	0	0.00127121	0	0
ZNF664	144348	broad.mit.edu	37	12	124497193	124497193	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:124497193G>C	ENST00000539644.1	+	6	2332	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	ZNF664_ENST00000337815.4_Missense_Mutation_p.E168Q|ZNF664_ENST00000392404.3_Missense_Mutation_p.E168Q|ZNF664_ENST00000538932.2_Missense_Mutation_p.E168Q|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		CCACACAGGAGAGAAACCCTA	0.512000													41	96					0	0	0.00170553	0	0
NR2F2	7026	broad.mit.edu	37	15	96880630	96880630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:96880630C>T	ENST00000394166.3	+	3	2413	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	NR2F2_ENST00000421109.2_Nonsense_Mutation_p.Q209*|NR2F2_ENST00000453270.2_Nonsense_Mutation_p.Q189*|NR2F2_ENST00000394171.2_Nonsense_Mutation_p.Q189*	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	342	Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGAAAAGTCTCAGTGTGCTTT	0.483000													43	39					0	0	0.00285205	0	0
NCF2	4688	broad.mit.edu	37	1	183536393	183536393	+	Silent	SNP	G	G	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:183536393G>T	ENST00000413720.1	-	7	940	c.666C>A	c.(664-666)gtC>gtA	p.V222V	NCF2_ENST00000367535.3_Silent_p.V267V|NCF2_ENST00000367536.1_Silent_p.V267V|NCF2_ENST00000418089.1_Silent_p.V186V	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	267					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCAAGACAAAGACAATGTTCC	0.552000													51	135					3.39706e-21	8.27246e-21	0.00361006	1	0
ARSD	414	broad.mit.edu	37	X	2835843	2835843	+	Splice_Site	SNP	A	A	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chrX:2835843A>G	ENST00000381154.1	-	5	939		c.e5+1		ARSD_ENST00000217890.6_Splice_Site	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D							lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGGTTGCTTACCTTTCAATA	0.498000													10	8					0	0	0.000673444	0	0
VPS13C	54832	broad.mit.edu	37	15	62170822	62170822	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:62170822C>T	ENST00000261517.5	-	74	10199	c.10126G>A	c.(10126-10128)Gat>Aat	p.D3376N	VPS13C_ENST00000395898.3_Missense_Mutation_p.D3333N|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Missense_Mutation_p.D3376N|VPS13C_ENST00000249837.3_Missense_Mutation_p.D3333N	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3376					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATAAGGTCATCCACATCAGTC	0.393000													15	14					0	0	0.000566183	0	0
TDRD7	23424	broad.mit.edu	37	9	100245328	100245328	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:100245328G>A	ENST00000355295.4	+	15	2905	c.2610G>A	c.(2608-2610)tcG>tcA	p.S870S	TDRD7_ENST00000422139.2_Silent_p.S796S|TDRD7_ENST00000540902.1_Silent_p.S190S	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	870	Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGCCCATGTCGGGCAACACTG	0.483000													12	16					0	0	0.000978159	0	0
ASTN2	23245	broad.mit.edu	37	9	120053704	120053704	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:120053704C>T	ENST00000313400.4	-	2	631	c.531G>A	c.(529-531)atG>atA	p.M177I	ASTN2_ENST00000373996.3_Missense_Mutation_p.M177I|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.M177I			O75129	ASTN2_HUMAN	astrotactin 2	177						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGAGCTGCTCATGGAGACGT	0.592000													30	45					0	0	0.00127121	0	0
CDSN	1041	broad.mit.edu	37	6	31084866	31084866	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr6:31084866G>C	ENST00000376288.2	-	2	552	c.526C>G	c.(526-528)Ctg>Gtg	p.L176V	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	176	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TTGGTTGGCAGAGCAGAGCCA	0.547000													32	0					0	0	0.00209593	0	0
KMT2D	8085	broad.mit.edu	37	12	49448705	49448705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:49448705G>A	ENST00000301067.7	-	2	153	c.154C>T	c.(154-156)Cag>Tag	p.Q52*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGAGTCTCCTGAAGCCTGGGA	0.527000													54	42					0	0	0.00361006	0	0
TRMT2A	27037	broad.mit.edu	37	22	20102387	20102387	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr22:20102387C>T	ENST00000252136.7	-	6	1406	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	TRMT2A_ENST00000403707.3_Missense_Mutation_p.E340K|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.E340K|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E340K	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	340					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						GCCAGCTCCTCAGGGCTCAGC	0.627000													6	9					0	0	0.00198382	0	0
NEK11	79858	broad.mit.edu	37	3	130887719	130887719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:130887719G>T	ENST00000383366.4	+	13	1515	c.1222G>T	c.(1222-1224)Gag>Tag	p.E408*	NEK11_ENST00000412440.2_Intron|NEK11_ENST00000507910.1_Nonsense_Mutation_p.E408*|NEK11_ENST00000356918.4_Nonsense_Mutation_p.E408*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.E408*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.E408*|NEK11_ENST00000510769.1_Nonsense_Mutation_p.E303*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.E408*|NEK11_ENST00000511262.1_Nonsense_Mutation_p.E408*	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	408					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GGAGCAACCTGAGGGAAGACT	0.423000													14	26					3.27435e-08	7.66607e-08	0.00244969	1	0
VDAC2	7417	broad.mit.edu	37	10	76973799	76973799	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr10:76973799G>A	ENST00000535553.1	+	0	256				VDAC2_ENST00000332211.6_Missense_Mutation_p.D41N|VDAC2_ENST00000313132.4_Missense_Mutation_p.D56N|VDAC2_ENST00000543351.1_Missense_Mutation_p.D41N|VDAC2_ENST00000472137.1_3'UTR			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2							mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	GGTGAAACTGGATGTGAAAAC	0.328000													137	17					0	0	0.00361006	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120210	38120210	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr22:38120210C>T	ENST00000406386.3	+	7	1902	c.1647C>T	c.(1645-1647)ccC>ccT	p.P549P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	549					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGACAACCCCACAACATCCT	0.602000													63	20					0	0	0.00361006	0	0
GINM1	116254	broad.mit.edu	37	6	149901764	149901764	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr6:149901764C>G	ENST00000367419.5	+	6	743	c.622C>G	c.(622-624)Ctt>Gtt	p.L208V		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		TAGCCAGTATCTTATCAGGAA	0.423000													36	9					0	0	0.00428921	0	0
RAB21	23011	broad.mit.edu	37	12	72163584	72163584	+	Nonsense_Mutation	SNP	C	C	G	rs79769755		TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:72163584C>G	ENST00000261263.3	+	2	420	c.164C>G	c.(163-165)tCa>tGa	p.S55*		NM_014999.2	NP_055814.1	Q9UL25	RAB21_HUMAN	RAB21, member RAS oncogene family	55					protein transport|small GTPase mediated signal transduction	cleavage furrow|cytoplasmic vesicle membrane|early endosome membrane|endoplasmic reticulum membrane|Golgi membrane	GDP binding|GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)	6						TTTTAGGCATCATTCTTAACA	0.299000													7	19					0	0	0.00198382	0	0
C19orf73	55150	broad.mit.edu	37	19	49621933	49621933	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:49621933C>G	ENST00000408991.2	-	1	464	c.347G>C	c.(346-348)aGa>aCa	p.R116T		NM_018111.2	NP_060581.2	Q9NVV2	CS073_HUMAN	chromosome 19 open reading frame 73	116										large_intestine(1)|lung(2)	3						CAGTCTGGGTCTGAGTGCTGG	0.622000													41	29					0	0	0.00170553	0	0
MAPK6	5597	broad.mit.edu	37	15	52338703	52338703	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:52338703C>T	ENST00000261845.5	+	2	853	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	16					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGGTTTTGATCTGGGTTCTAG	0.378000													26	57					0	0	0.00465635	0	0
NLRP1	22861	broad.mit.edu	37	17	5463250	5463250	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:5463250C>G	ENST00000345221.3	-	4	1320	c.766G>C	c.(766-768)Gag>Cag	p.E256Q	NLRP1_ENST00000269280.4_Missense_Mutation_p.E256Q|NLRP1_ENST00000577119.1_Missense_Mutation_p.E256Q|NLRP1_ENST00000572272.1_Missense_Mutation_p.E256Q|NLRP1_ENST00000262467.5_Missense_Mutation_p.E256Q|NLRP1_ENST00000354411.3_Missense_Mutation_p.E256Q|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	256					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ACAGAAGGCTCCCATGGGTGG	0.552000													161	8					0	0	0.00361006	0	0
CXXC1	30827	broad.mit.edu	37	18	47811443	47811443	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr18:47811443C>G	ENST00000285106.6	-	7	1555	c.841G>C	c.(841-843)Gat>Cat	p.D281H	CXXC1_ENST00000589940.1_Missense_Mutation_p.D281H|CXXC1_ENST00000412036.2_Missense_Mutation_p.D281H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	281	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AGGTCCTCATCTGAGAGTGGC	0.567000													31	28					0	0	0.001512	0	0
AKNA	80709	broad.mit.edu	37	9	117119165	117119165	+	Missense_Mutation	SNP	C	C	G	rs150349533	byFrequency	TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:117119165C>G	ENST00000307564.4	-	13	2985	c.2824G>C	c.(2824-2826)Gag>Cag	p.E942Q	AKNA_ENST00000223791.3_Missense_Mutation_p.E402Q|AKNA_ENST00000374088.3_Missense_Mutation_p.E942Q|AKNA_ENST00000374075.5_Missense_Mutation_p.E861Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	942					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGCCGGTGCTCTGGAGTCTGG	0.587000													28	58					0	0	0.001512	0	0
TAF4B	6875	broad.mit.edu	37	18	23873440	23873440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr18:23873440C>T	ENST00000269142.5	+	9	2775	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	TAF4B_ENST00000578121.1_Nonsense_Mutation_p.Q598*|TAF4B_ENST00000400466.2_Nonsense_Mutation_p.Q593*	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	593					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCTGTCACTTCAAGCATCTCC	0.284000													17	13					0	0	0.00121646	0	0
ZNF330	27309	broad.mit.edu	37	4	142151333	142151333	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr4:142151333C>G	ENST00000262990.4	+	7	660	c.432C>G	c.(430-432)ttC>ttG	p.F144L	ZNF330_ENST00000421169.2_Missense_Mutation_p.F84L	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	144						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GCAGAATATTCAGTTGTTCTT	0.303000													13	47					0	0	0.00136819	0	0
AGAP3	116988	broad.mit.edu	37	7	150835370	150835370	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:150835370A>G	ENST00000397238.2	+	12	1636	c.1636A>G	c.(1636-1638)Act>Gct	p.T546A	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	510	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGAGGCCACCACTTCCCTGCC	0.697000													5	7					0	0	0.00116845	0	0
POGLUT1	56983	broad.mit.edu	37	3	119211213	119211213	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:119211213C>A	ENST00000295588.4	+	11	1191	c.1107C>A	c.(1105-1107)ttC>ttA	p.F369L		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	369						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						ACTCTAAATTCCTGTCTTATA	0.368000													25	31					4.47668e-21	1.0868e-20	0.00395357	1	0
SLITRK5	26050	broad.mit.edu	37	13	88327742	88327742	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr13:88327742C>T	ENST00000325089.6	+	2	318	c.99C>T	c.(97-99)ctC>ctT	p.L33L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	33						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TAACATCTCTCGTCCTTTCGT	0.453000													58	40					0	0	0.00361006	0	0
OSBP	5007	broad.mit.edu	37	11	59344284	59344284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:59344284C>A	ENST00000263847.1	-	13	2754	c.2275G>T	c.(2275-2277)Gag>Tag	p.E759*		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	759					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TTACCATCCTCTGTGGCTTTC	0.438000													49	55					6.17242e-35	1.52189e-34	0.00361006	1	0
BCAS1	8537	broad.mit.edu	37	20	52645461	52645461	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr20:52645461C>G	ENST00000395961.3	-	4	359	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	BCAS1_ENST00000371440.3_Missense_Mutation_p.E65Q|BCAS1_ENST00000411563.1_5'UTR|BCAS1_ENST00000371435.2_Missense_Mutation_p.E65Q	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	65						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCCGTTGTCTCGGGGGAAGAA	0.468000													46	6					0	0	0.00361006	0	0
ANXA13	312	broad.mit.edu	37	8	124701174	124701174	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr8:124701174C>G	ENST00000262219.6	-	10	845	c.778G>C	c.(778-780)Gac>Cac	p.D260H	ANXA13_ENST00000419625.1_Missense_Mutation_p.D219H	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	219					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTTCTATGTCTTTGCCAATG	0.428000													31	98					0	0	0.00283554	0	0
MAN2B2	23324	broad.mit.edu	37	4	6588737	6588737	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr4:6588737C>T	ENST00000285599.3	+	4	442	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F	MAN2B2_ENST00000504248.1_Missense_Mutation_p.L136F	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	136					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACACGGGTTTCTCTATGAAAC	0.627000													40	32					0	0	0.00222228	0	0
YIPF1	54432	broad.mit.edu	37	1	54348928	54348928	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:54348928G>A	ENST00000072644.1	-	4	389	c.53C>T	c.(52-54)tCt>tTt	p.S18F	YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.S43F|YIPF1_ENST00000469457.1_Intron	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	18						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TGCTGTCAGAGAAGTGGCTGC	0.453000													7	30					0	0	0.00198382	0	0
NEK11	79858	broad.mit.edu	37	3	130887755	130887755	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:130887755G>T	ENST00000383366.4	+	13	1551	c.1258G>T	c.(1258-1260)Gaa>Taa	p.E420*	NEK11_ENST00000412440.2_Intron|NEK11_ENST00000507910.1_Nonsense_Mutation_p.E420*|NEK11_ENST00000356918.4_Nonsense_Mutation_p.E420*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.E420*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.E420*|NEK11_ENST00000510769.1_Nonsense_Mutation_p.E315*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.E420*|NEK11_ENST00000511262.1_Nonsense_Mutation_p.E420*	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	420					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GGACGAGGATGAAGAGAGGTG	0.413000													11	27					1.61879e-10	3.82403e-10	0.00136819	1	0
MYO5C	55930	broad.mit.edu	37	15	52488553	52488553	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:52488553C>T	ENST00000261839.7	-	39	5109	c.4948G>A	c.(4948-4950)Gat>Aat	p.D1650N	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1650	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCCTTGGCATCACTGTCTGTG	0.522000													13	10					0	0	0.00185496	0	0
PTDSS1	9791	broad.mit.edu	37	8	97316381	97316381	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr8:97316381G>C	ENST00000517309.1	+	7	1192	c.866G>C	c.(865-867)gGa>gCa	p.G289A	PTDSS1_ENST00000522072.1_Missense_Mutation_p.G86A|PTDSS1_ENST00000455950.2_Missense_Mutation_p.G143A|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	289					phosphatidylserine biosynthetic process	integral to membrane	transferase activity	p.G289A(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AGAGTAGCTGGAGTGTACCTT	0.413000													99	75					0	0	0.00361006	0	0
KLHL1	57626	broad.mit.edu	37	13	70549846	70549846	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr13:70549846C>T	ENST00000377844.4	-	2	1345	c.586G>A	c.(586-588)Gag>Aag	p.E196K	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	196					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.E196*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AAGGTTTGCTCAGCATGATGA	0.423000													34	47					0	0	0.00209593	0	0
ZNF646	9726	broad.mit.edu	37	16	31091412	31091412	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr16:31091412G>A	ENST00000394979.2	+	1	4190	c.3767G>A	c.(3766-3768)cGa>cAa	p.R1256Q	ZNF646_ENST00000300850.5_Missense_Mutation_p.R1256Q			O15015	ZN646_HUMAN	zinc finger protein 646	1256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCAGATCCCCGACGTTTCCGC	0.652000													28	9					0	0	0.00178596	0	0
ZNF568	374900	broad.mit.edu	37	19	37441869	37441869	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:37441869T>C	ENST00000415168.1	+	5	1998	c.1622T>C	c.(1621-1623)aTg>aCg	p.M541T	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Missense_Mutation_p.M605T	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTATACATATGAGAAGTCAT	0.393000													12	36					0	0	0.00185496	0	0
DENND2A	27147	broad.mit.edu	37	7	140223167	140223167	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:140223167G>C	ENST00000275884.6	-	16	3022	c.2605C>G	c.(2605-2607)Ctg>Gtg	p.L869V	DENND2A_ENST00000537639.1_Missense_Mutation_p.L869V|DENND2A_ENST00000496613.1_Missense_Mutation_p.L869V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	869										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTCTGTTCCAGAATGTGTTCC	0.602000													20	18					0	0	0.00121646	0	0
GLYCTK	132158	broad.mit.edu	37	3	52324464	52324464	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:52324464G>C	ENST00000354773.4	+	2	202	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	GLYCTK_ENST00000436784.2_Missense_Mutation_p.E36Q|GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000473032.1_Missense_Mutation_p.E36Q|GLYCTK_ENST00000305690.8_Missense_Mutation_p.E36Q|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000477382.1_Missense_Mutation_p.E36Q|GLYCTK_ENST00000471180.1_Intron	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	36					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		GGCCTTGGCAGAGCAGGCCAG	0.672000													26	26					0	0	0.000878237	0	0
KIAA0195	9772	broad.mit.edu	37	17	73482422	73482422	+	Silent	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:73482422C>G	ENST00000314256.7	+	5	718	c.324C>G	c.(322-324)ctC>ctG	p.L108L	KIAA0195_ENST00000375248.5_Silent_p.L118L|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	108					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TACTGCTTCTCAACCTTGTGC	0.627000													57	114					0	0	0.00361006	0	0
C11orf16	56673	broad.mit.edu	37	11	8947430	8947430	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:8947430G>T	ENST00000326053.5	-	5	890	c.784C>A	c.(784-786)Cca>Aca	p.P262T	C11orf16_ENST00000525780.1_Missense_Mutation_p.P262T	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	262										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CACAGGAATGGAGCATCCGGA	0.627000													41	56					2.19489e-29	5.39491e-29	0.00128727	1	0
CASC5	57082	broad.mit.edu	37	15	40933217	40933217	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:40933217G>C	ENST00000346991.5	+	15	6258	c.5868G>C	c.(5866-5868)aaG>aaC	p.K1956N	CASC5_ENST00000399668.2_Missense_Mutation_p.K1930N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1956	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTCGCCAAAAGATTGAAGAGT	0.373000													20	40					0	0	0.00465635	0	0
ZNF274	10782	broad.mit.edu	37	19	58723825	58723825	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:58723825G>A	ENST00000326804.4	+	9	1734	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.E393E|ZNF274_ENST00000424679.2_Silent_p.E320E	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	426					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ACAACCCTGAGTCCCAGGCAA	0.463000													33	33					0	0	0.00375469	0	0
EGF	1950	broad.mit.edu	37	4	110925665	110925665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr4:110925665C>T	ENST00000265171.5	+	22	3623	c.3178C>T	c.(3178-3180)Cag>Tag	p.Q1060*	EGF_ENST00000503392.1_Nonsense_Mutation_p.Q1019*|EGF_ENST00000509793.1_Nonsense_Mutation_p.Q1018*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1060					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TCACAGGACTCAGAAGCTGCT	0.453000													46	55					0	0	0.00361006	0	0
ITPR2	3709	broad.mit.edu	37	12	26781039	26781039	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:26781039C>G	ENST00000381340.3	-	23	3407	c.2991G>C	c.(2989-2991)aaG>aaC	p.K997N	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	997					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAAACTCCTTCTTATATATTG	0.358000													82	67					0	0	0.00361006	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151209106	151209106	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:151209106G>C	ENST00000409426.1	+	8	1421	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	PIP5K1A_ENST00000414290.2_Missense_Mutation_p.E39Q|PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.E326Q|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.E325Q|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.E338Q			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	338	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCACAACGAGAGCCCTTAAG	0.458000													9	40					0	0	0.00448238	0	0
SOX12	6666	broad.mit.edu	37	20	306653	306653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr20:306653G>T	ENST00000342665.2	+	1	415	c.85G>T	c.(85-87)Gag>Tag	p.E29*	SOX12_ENST00000544632.1_Nonsense_Mutation_p.E29*|RP5-1103G7.4_ENST00000442637.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	29					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			gggggcgcgcgagcccggcTG	0.746000													4	6					0.00024832	0.000571208	0.00024832	1	0
PIK3R1	5295	broad.mit.edu	37	5	67576355	67576355	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:67576355G>A	ENST00000521381.1	+	6	1250		c.e6-1		PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TAAACTTGTAGAAGTACAAAG	0.343000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			35	79					0	0	0.00195071	0	0
INPP5E	56623	broad.mit.edu	37	9	139325493	139325493	+	Silent	SNP	C	C	T	rs150464071		TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:139325493C>T	ENST00000371712.3	-	8	2028	c.1626G>A	c.(1624-1626)acG>acA	p.T542T		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	542						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TGCTGTCGTACGTGTCCTTCC	0.617000													13	18					0	0	0.00244969	0	0
PHF11	51131	broad.mit.edu	37	13	50102700	50102700	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr13:50102700G>C	ENST00000357596.3	+	11	1054	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	PHF11_ENST00000378319.3_Missense_Mutation_p.E299Q|PHF11_ENST00000488958.1_Missense_Mutation_p.E260Q	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		GTTGAAGGAAGAGATTGAGCT	0.318000													44	3					0	0	0.00361006	0	0
POGLUT1	56983	broad.mit.edu	37	3	119211250	119211250	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:119211250C>G	ENST00000295588.4	+	11	1228	c.1144C>G	c.(1144-1146)Caa>Gaa	p.Q382E		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	382						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						AGGTTATGATCAAATTATTCC	0.388000													25	30					0	0	0.00395357	0	0
VTRNA2-1	100126299	broad.mit.edu	37	5	135416238	135416238	+	RNA	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:135416238G>C	ENST00000602301.1	-	0	48					NR_030583.2																						GAGATGGACAGATAGAAAGTC	0.483000													17	20					0	0	0.000566183	0	0
EVC2	132884	broad.mit.edu	37	4	5624326	5624326	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr4:5624326G>A	ENST00000310917.2	-	14	2930	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D	EVC2_ENST00000344408.5_Silent_p.D813D|EVC2_ENST00000344938.1_Silent_p.D813D	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	813						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCTCAGGAGCGTCATCCTTCA	0.637000													5	21					0	0	0.000602214	0	0
WDR6	11180	broad.mit.edu	37	3	49051149	49051149	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:49051149G>A	ENST00000395474.3	+	2	2552	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	WDR6_ENST00000448293.1_Missense_Mutation_p.D677N|WDR6_ENST00000608424.1_Missense_Mutation_p.D728N|WDR6_ENST00000415265.2_Missense_Mutation_p.D176N	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	728					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CATGCAGCCTGATGACCTGGA	0.562000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	25					0	0	0.00074312	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57867948	57867948	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:57867948C>T	ENST00000393797.2	-	19	2257	c.2065G>A	c.(2065-2067)Gat>Aat	p.D689N	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.D599N|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.D599N|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.D415N|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.D678N|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.D618N			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	618	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CTGTCCAAATCTAACCGACCT	0.517000													10	23					0	0	0.000673444	0	0
OR1J2	26740	broad.mit.edu	37	9	125273430	125273430	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:125273430C>G	ENST00000335302.5	+	1	350	c.350C>G	c.(349-351)tCa>tGa	p.S117*		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTTATTACATCAATGGCATAT	0.403000													19	39					0	0	0.00074312	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671306	131671306	+	Silent	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:131671306C>T	ENST00000259324.5	+	3	2386	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L	LRRC8A_ENST00000372600.4_Silent_p.L621L|LRRC8A_ENST00000372599.3_Silent_p.L621L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	621					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGATTGACCTCAAGGACAACA	0.562000													14	23					0	0	0.00185496	0	0
UPRT	139596	broad.mit.edu	37	X	74494354	74494354	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chrX:74494354G>A	ENST00000373379.1	+	1	430	c.265G>A	c.(265-267)Gac>Aac	p.D89N	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000373383.4_Missense_Mutation_p.D89N			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	89					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						TAGCAGCTATGACGCACCAGC	0.612000													8	1					0	0	0.00307968	0	0
GBP1	2633	broad.mit.edu	37	1	89522815	89522815	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:89522815G>C	ENST00000370473.4	-	7	1096	c.877C>G	c.(877-879)Cta>Gta	p.L293V		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	293					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGGCTCTCTAGACCTGCATAT	0.473000													12	33					0	0	0.00185496	0	0
FAM189A2	9413	broad.mit.edu	37	9	71998867	71998867	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:71998867C>A	ENST00000257515.8	+	8	1049	c.629C>A	c.(628-630)tCt>tAt	p.S210Y	FAM189A2_ENST00000303068.7_Missense_Mutation_p.S45Y|FAM189A2_ENST00000455972.1_Missense_Mutation_p.S210Y	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	210						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ATGCAGGGATCTTCATTCCAA	0.443000													12	12					2.68362e-12	6.41629e-12	0.00136819	1	0
HRNR	388697	broad.mit.edu	37	1	152188442	152188442	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:152188442C>T	ENST00000368801.2	-	3	5738	c.5663G>A	c.(5662-5664)gGa>gAa	p.G1888E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1888					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCCAGATCCATGCTGAGT	0.537000													211	1672					0	0	0.00361006	0	0
CEP350	9857	broad.mit.edu	37	1	179966254	179966254	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:179966254C>G	ENST00000367607.3	+	6	1380	c.962C>G	c.(961-963)tCa>tGa	p.S321*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	321						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTGATAACTCAGTAACAGCA	0.428000													33	58					0	0	0.00178596	0	0
NOC2L	26155	broad.mit.edu	37	1	894355	894355	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:894355C>G	ENST00000327044.6	-	2	182	c.133G>C	c.(133-135)Gag>Cag	p.E45Q	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	45						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CGGGCAGCCTCGCGTGCTTCC	0.642000													15	29					0	0	0.00244969	0	0
C6orf203	51250	broad.mit.edu	37	6	107365497	107365497	+	Silent	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr6:107365497C>G	ENST00000443043.1	+	4	1194	c.519C>G	c.(517-519)ctC>ctG	p.L173L	C6orf203_ENST00000405204.2_Silent_p.L168L|C6orf203_ENST00000311381.5_Silent_p.L168L	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	168										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		AAGGTGAACTCAGGCTGAATG	0.393000													33	10					0	0	0.00428921	0	0
KLHL17	339451	broad.mit.edu	37	1	899321	899321	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:899321G>A	ENST00000338591.3	+	9	1484	c.1377G>A	c.(1375-1377)ctG>ctA	p.L459L		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	459	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGACCCCCTGACCGGAACGT	0.697000													89	48					0	0	0.00361006	0	0
CYP51A1	1595	broad.mit.edu	37	7	91752451	91752451	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:91752451G>A	ENST00000003100.8	-	7	1234	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Missense_Mutation_p.P252S	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	351					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	TAAGTTAAAGGAGGCAGATTC	0.363000													16	29					0	0	0.00316338	0	0
TOP3A	7156	broad.mit.edu	37	17	18178247	18178247	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:18178247C>G	ENST00000321105.5	-	19	3089	c.2875G>C	c.(2875-2877)Gag>Cag	p.E959Q	TOP3A_ENST00000542570.1_Missense_Mutation_p.E864Q|TOP3A_ENST00000540524.1_Missense_Mutation_p.E489Q	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	959					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCTTCCGACTCCAGGGTTCTT	0.597000													27	38					0	0	0.000878237	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559508	140559508	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:140559508G>A	ENST00000239444.2	+	1	2138	c.1893G>A	c.(1891-1893)ctG>ctA	p.L631L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		631	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGCTGCTGAGCGAGCGCG	0.692000													39	52					0	0	0.00361006	0	0
ANXA13	312	broad.mit.edu	37	8	124714888	124714888	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr8:124714888G>A	ENST00000262219.6	-	4	370	c.303C>T	c.(301-303)taC>taT	p.Y101Y	ANXA13_ENST00000419625.1_Silent_p.Y60Y	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	60					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	p.Y101*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCACCTTGCCGTACGTTGCCT	0.507000													43	87					0	0	0.00285205	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563415	140563415	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:140563415G>A	ENST00000361016.2	+	1	2436	c.1281G>A	c.(1279-1281)ggG>ggA	p.G427G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		427	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGATATGGGGACTCCAAGGC	0.473000													43	53					0	0	0.00148497	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34113464	34113464	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:34113464G>A	ENST00000341394.4	+	15	1755	c.1566G>A	c.(1564-1566)atG>atA	p.M522I	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.M522I|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.M441I|CAPRIN1_ENST00000533657.1_3'UTR|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.M522I|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.M522I	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	522					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TGTTCAATATGAATGCCCCAG	0.378000													21	21					0	0	0.00152264	0	0
ATP8B4	79895	broad.mit.edu	37	15	50189653	50189653	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr15:50189653C>A	ENST00000284509.6	-	23	2674	c.2533G>T	c.(2533-2535)Gac>Tac	p.D845Y	ATP8B4_ENST00000559829.1_Missense_Mutation_p.D845Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	845					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AATGAATAGTCGCTGGCTAAG	0.438000													4	98					0.000602214	0.00138124	0.000602214	1	0
TEX264	51368	broad.mit.edu	37	3	51733523	51733523	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr3:51733523G>A	ENST00000415259.1	+	4	1663	c.582G>A	c.(580-582)gaG>gaA	p.E194E	TEX264_ENST00000341333.5_Silent_p.E194E|TEX264_ENST00000416589.1_Silent_p.E194E|TEX264_ENST00000395057.1_Silent_p.E194E|TEX264_ENST00000457573.1_Silent_p.E194E|TEX264_ENST00000463857.1_3'UTR			Q9Y6I9	TX264_HUMAN	testis expressed 264	194						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		ATGTGCCTGAGATGAAGGAGA	0.577000													47	63					0	0	0.00361006	0	0
ME3	10873	broad.mit.edu	37	11	86209145	86209145	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr11:86209145C>T	ENST00000543262.1	-	6	891	c.565G>A	c.(565-567)Gag>Aag	p.E189K	ME3_ENST00000393324.3_Missense_Mutation_p.E189K|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000525957.1_5'UTR|ME3_ENST00000323418.6_Missense_Mutation_p.E127K|ME3_ENST00000359636.2_Missense_Mutation_p.E189K	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	189					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AGGATGCGCTCCCCATCAGTC	0.627000													25	53					0	0	0.00127121	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475342	50475342	+	RNA	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:50475342C>T	ENST00000602139.1	+	0	1288									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						GCGTCTCTCTCAGCTTCTCCG	0.667000													8	30					0	0	0.000442599	0	0
PAPPA	5069	broad.mit.edu	37	9	119033631	119033631	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:119033631G>C	ENST00000328252.3	+	9	3258	c.2889G>C	c.(2887-2889)atG>atC	p.M963I	PAPPA_ENST00000534838.1_Start_Codon_SNP_p.M1I	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	963					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCGACGACATGAATAAGATCA	0.428000													31	49					0	0	0.00327116	0	0
AVPR1B	553	broad.mit.edu	37	1	206225233	206225233	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:206225233C>T	ENST00000367126.4	+	1	1258	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	265					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.R265W(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTGCCATCTCGGGTCAGCAG	0.607000													18	40					0	0	0.000566183	0	0
C17orf102	400591	broad.mit.edu	37	17	32906018	32906018	+	Silent	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:32906018G>C	ENST00000357754.1	-	1	370	c.282C>G	c.(280-282)ctC>ctG	p.L94L		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	94										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CGCGGCCCGAGAGGAGCTGGG	0.677000													56	82					0	0	0.00361006	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471647	61471647	+	Silent	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr18:61471647C>G	ENST00000398019.2	+	8	1246	c.921C>G	c.(919-921)ctC>ctG	p.L307L	SERPINB7_ENST00000336429.2_Silent_p.L307L|SERPINB7_ENST00000546027.1_Silent_p.L307L|SERPINB7_ENST00000540675.1_Silent_p.L290L	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	307					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AAGCAGATCTCTCTGGGATTG	0.428000													18	14					0	0	0.00121646	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355210	33355210	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr19:33355210G>A	ENST00000023064.4	-	4	461	c.270C>T	c.(268-270)atC>atT	p.I90I	SLC7A9_ENST00000590341.1_Silent_p.I90I|SLC7A9_ENST00000587772.1_Silent_p.I90I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	90					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTGACTTGGTGATCATTGTGC	0.627000													7	17					0	0	0.00198382	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600526	116600526	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr6:116600526C>G	ENST00000368608.3	-	1	540	c.468G>C	c.(466-468)aaG>aaC	p.K156N	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	156					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		ACTTTCCTGTCTTCACCTCCT	0.642000													39	11					0	0	0.00128727	0	0
ACAD10	80724	broad.mit.edu	37	12	112171868	112171868	+	Silent	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:112171868G>C	ENST00000455480.2	+	12	1806	c.1629G>C	c.(1627-1629)ctG>ctC	p.L543L	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.L512L|ACAD10_ENST00000392636.2_Silent_p.L114L|ACAD10_ENST00000313698.4_Silent_p.L512L	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	512							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTCCCGTGCTGAGAGGTAGGA	0.562000													13	24					0	0	0.00185496	0	0
SEC14L1	6397	broad.mit.edu	37	17	75205486	75205486	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr17:75205486G>C	ENST00000413679.2	+	14	1842	c.1539G>C	c.(1537-1539)gaG>gaC	p.E513D	SEC14L1_ENST00000585618.1_Missense_Mutation_p.E513D|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E513D|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E479D|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E513D|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E479D|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E513D|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E513D	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	513					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGGAGCTGGAGAACGAAGACC	0.557000													17	13					0	0	0.00074312	0	0
ZFP36L1	677	broad.mit.edu	37	14	69262806	69262806	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr14:69262806C>T	ENST00000408913.2	-	1	384	c.206G>A	c.(205-207)gGa>gAa	p.G69E				Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	330					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		ACTGCCGCTTCCGACCGGGAG	0.751000													8	15					0	0	0.00307968	0	0
LRP1	4035	broad.mit.edu	37	12	57585154	57585154	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr12:57585154G>A	ENST00000243077.3	+	44	7754	c.7288G>A	c.(7288-7290)Gag>Aag	p.E2430K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2430					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGTGTATGGGGAGCACATTTT	0.622000													13	11					0	0	0.00185496	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135103335	135103335	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr10:135103335G>A	ENST00000368563.2	-	9	1709	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	TUBGCP2_ENST00000417178.2_Silent_p.L321L|TUBGCP2_ENST00000543663.1_Silent_p.L479L|TUBGCP2_ENST00000252936.3_Silent_p.L451L|TUBGCP2_ENST00000368562.1_Silent_p.L44L	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	451					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CACCTGTGCTGAGGATCTTGT	0.642000													7	2					0	0	0.000978159	0	0
ERO1L	30001	broad.mit.edu	37	14	53119019	53119019	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr14:53119019G>A	ENST00000395686.3	-	13	1286	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	355					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AAATGCAAAGGAAATGACCTG	0.279000													31	26					0	0	0.0024448	0	0
MICAL3	57553	broad.mit.edu	37	22	18385442	18385442	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr22:18385442C>T	ENST00000441493.2	-	4	896	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	MICAL3_ENST00000585038.1_Missense_Mutation_p.E182K|MICAL3_ENST00000400561.2_Missense_Mutation_p.E182K|MICAL3_ENST00000444520.1_Missense_Mutation_p.E182K|MICAL3_ENST00000207726.7_Missense_Mutation_p.E182K|MICAL3_ENST00000414725.2_Missense_Mutation_p.E182K|MICAL3_ENST00000429452.1_Missense_Mutation_p.E182K|MICAL3_ENST00000383094.3_Missense_Mutation_p.E182K	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	182						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCTTGGAATTCCACATTGACG	0.458000													3	9					0	0	6.4e-05	0	0
VCP	7415	broad.mit.edu	37	9	35061056	35061056	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:35061056C>A	ENST00000358901.6	-	11	2210	c.1315G>T	c.(1315-1317)Gcc>Tcc	p.A439S		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	439					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATGACCTCGGCATCAATGGTC	0.537000													78	115					5.88917e-42	1.46118e-41	0.00361006	1	0
VCAM1	7412	broad.mit.edu	37	1	101200190	101200190	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:101200190G>C	ENST00000294728.2	+	8	2026	c.1925G>C	c.(1924-1926)gGa>gCa	p.G642A	VCAM1_ENST00000370119.4_Missense_Mutation_p.G580A|VCAM1_ENST00000347652.2_Missense_Mutation_p.G550A|VCAM1_ENST00000370115.1_Missense_Mutation_p.G443A	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	642	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GCGGAGACAGGAGACACAGTA	0.423000													6	22					0	0	0.00116845	0	0
ATMIN	23300	broad.mit.edu	37	16	81076045	81076045	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr16:81076045C>G	ENST00000566488.1	+	2	1117	c.154C>G	c.(154-156)Cac>Gac	p.H52D	ATMIN_ENST00000564241.1_Missense_Mutation_p.H52D|ATMIN_ENST00000299575.4_Missense_Mutation_p.H208D|ATMIN_ENST00000539819.1_Intron			O43313	ATMIN_HUMAN	ATM interactor	208					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ACTGCAGTCTCACATCTACCG	0.512000													18	1					0	0	0.000566183	0	0
ITGA10	8515	broad.mit.edu	37	1	145539074	145539074	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:145539074C>A	ENST00000369304.3	+	25	3189	c.3014C>A	c.(3013-3015)tCt>tAt	p.S1005Y	ITGA10_ENST00000538811.1_Missense_Mutation_p.S874Y|ITGA10_ENST00000539363.1_Missense_Mutation_p.S862Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1005					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			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)					CTATCACTGTCTCAAGTCATC	0.537000													10	50					1.58986e-06	3.68942e-06	0.000673444	1	0
PLEKHG5	57449	broad.mit.edu	37	1	6529426	6529426	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr1:6529426C>G	ENST00000377748.1	-	19	2746	c.2249G>C	c.(2248-2250)cGt>cCt	p.R750P	PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R742P|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R673P|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R729P|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R673P|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R673P|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R673P|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R673P|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R673P|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R752P|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.R750P|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R710P	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	729					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CACCCAGCCACGGCACAAGGC	0.567000													42	128					0	0	0.00361006	0	0
LCN15	389812	broad.mit.edu	37	9	139658199	139658199	+	Silent	SNP	C	C	G			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr9:139658199C>G	ENST00000316144.5	-	3	297	c.273G>C	c.(271-273)ctG>ctC	p.L91L	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	91					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|lung(1)	2						AGCCCACCTTCAGGTACTCGG	0.672000													34	30					0	0	0.00283554	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44807139	44807139	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:44807139G>A	ENST00000309315.4	+	19	2803	c.2680G>A	c.(2680-2682)Gat>Aat	p.D894N	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.D836N|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.D894N|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.D862N|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.D868N	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	894	Pro-rich.				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			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						GACCAACCCTGATGAGCTACT	0.522000													27	15					0	0	0.00178596	0	0
DNAH8	1769	broad.mit.edu	37	6	38835879	38835879	+	Silent	SNP	G	G	A			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr6:38835879G>A	ENST00000359357.3	+	46	6338	c.6084G>A	c.(6082-6084)ttG>ttA	p.L2028L	DNAH8_ENST00000449981.2_Silent_p.L2245L|DNAH8_ENST00000441566.1_Silent_p.L1992L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTCTGTATTGAGGACTCTTG	0.368000													14	64					0	0	0.00316338	0	0
PAPSS1	9061	broad.mit.edu	37	4	108603247	108603247	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr4:108603247delG	ENST00000265174.4	-	5	865	c.593delC	c.(592-594)cctfs	p.P198fs	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	198					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CACCAACTCAGGGGCCTCTGG	0.398													23	33	---	---	---	---					
CDKL3	51265	broad.mit.edu	37	5	133695761	133695761	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr5:133695761delC	ENST00000521118.1	-	3	301	c.187delG	c.(187-189)gtcfs	p.V63fs	CDKL3_ENST00000435211.1_Frame_Shift_Del_p.V63fs|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000522501.1_Intron|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000265334.4_Frame_Shift_Del_p.V63fs|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000536186.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000523832.1_Frame_Shift_Del_p.V63fs|CDKL3_ENST00000435240.2_Intron			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	63	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			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)			ATCAGATTGACCAGGTTTTCG	0.274													2	4	---	---	---	---					
BPGM	669	broad.mit.edu	37	7	134346669	134346671	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr7:134346669_134346671delACA	ENST00000393132.2	+	3	899_901	c.410_412delACA	c.(409-414)tacaac>tac	p.N138del	BPGM_ENST00000344924.3_In_Frame_Del_p.N138del|BPGM_ENST00000418040.1_In_Frame_Del_p.N138del	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	138					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CAAGAAATCTACAACGACCGGAG	0.473													9	19	---	---	---	---					
SPOCK2	9806	broad.mit.edu	37	10	73831966	73831967	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr10:73831966_73831967delTG	ENST00000373109.2	-	4	738_739	c.294_295delCA	c.(292-297)cacaagfs	p.HK98fs	SPOCK2_ENST00000536168.1_Frame_Shift_Del_p.HK98fs|SPOCK2_ENST00000317376.4_Frame_Shift_Del_p.HK98fs	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	98					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATGCACACCTTGTGGCGGCTGC	0.634													2	4	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													4	7	---	---	---	---					
C16orf71	146562	broad.mit.edu	37	16	4796953	4796955	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FD-A6TE-01A-12D-A339-08	TCGA-FD-A6TE-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90c32ed7-8501-4559-b746-0e58f73fc66e	e4d1d3af-94a4-4c06-b5e0-55a786c1f0fa	g.chr16:4796953_4796955delGAG	ENST00000299320.5	+	8	1685_1687	c.1207_1209delGAG	c.(1207-1209)gagdel	p.E409del	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	409								p.E403delE(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CTCTGACAGTGAGGAGGAGGAGG	0.611													2	4	---	---	---	---					
