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
SSTR3	6753	broad.mit.edu	37	22	37602836	37602836	+	Missense_Mutation	SNP	C	C	T	rs143937169		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:37602836C>T	ENST00000328544.3	-	2	1540	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R336H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	336			R -> C (in dbSNP:rs4988469).		G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CTCCTGGCTGCGCACACGGCG	0.657000													50	83					0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21799508	21799508	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:21799508C>T	ENST00000443632.2	+	2	696	c.324C>T	c.(322-324)agC>agT	p.S108S	HIC2_ENST00000407464.2_Silent_p.S108S|HIC2_ENST00000407598.2_Silent_p.S108S			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	108	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGCTGCCCAGCGACCAGCCAG	0.607000													14	77					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58678170	58678170	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:58678170C>T	ENST00000305921.3	+	1	627	c.395C>T	c.(394-396)tCg>tTg	p.S132L		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	132	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GGTTTCACCTCGTCCGAGCCG	0.597000													26	114					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57839215	57839215	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:57839215G>C	ENST00000321545.4	+	4	730	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGGCCATCTGAAATGCAAGA	0.512000													27	68					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													6	48					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328376	152328376	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:152328376G>A	ENST00000388718.5	-	3	1958	c.1886C>T	c.(1885-1887)tCt>tTt	p.S629F	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	629	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATAGCCAGATGACTGACT	0.502000													81	386					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39644703	39644703	+	Splice_Site	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:39644703G>A	ENST00000262039.4	+	23	2518		c.e23-1		PIK3C3_ENST00000593098.1_Splice_Site|PIK3C3_ENST00000587328.1_5'UTR|PIK3C3_ENST00000398870.3_Splice_Site|PIK3C3_ENST00000588156.1_Splice_Site	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3						cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CTCTTCTTTAGGTATTCTAAT	0.303000										TSP Lung(28;0.18)			6	22					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140958	143140958	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:143140958C>G	ENST00000332690.1	+	1	413	c.413C>G	c.(412-414)tCt>tGt	p.S138C	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	138					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CACAAGTTGTCTGGGTGGCTA	0.468000													73	247					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524343	51524343	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:51524343C>T	ENST00000371117.3	-	61	10856	c.10581G>A	c.(10579-10581)ctG>ctA	p.L3527L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3527					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAGATTCATTCAGCAATAAGG	0.448000													18	74					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41979191	41979191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:41979191G>A	ENST00000372584.1	-	7	6715	c.5701C>T	c.(5701-5703)Cag>Tag	p.Q1901*	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.Q1901*|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.Q1901*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.Q1901*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1901					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCTGGGGGCTGAGGGCCCAGG	0.682000													9	34					0	0	1	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46011731	46011731	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr21:46011731G>C	ENST00000400368.1	-	1	655	c.635C>G	c.(634-636)tCt>tGt	p.S212C	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	212	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CTGGCAGCTAGACTGCTGGCA	0.677000													69	207					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27720232	27720232	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:27720232G>A	ENST00000261588.4	+	13	1615	c.1596G>A	c.(1594-1596)agG>agA	p.R532R	CTD-2049O4.1_ENST00000564893.1_RNA|CTD-2049O4.1_ENST00000568831.1_RNA|CTD-2049O4.1_ENST00000563052.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	532										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCGTCAACAGGAACTTAGCTG	0.512000													28	58					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49443510	49443510	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:49443510C>T	ENST00000301067.7	-	11	3860	c.3861G>A	c.(3859-3861)gaG>gaA	p.E1287E		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCCGCCCCTTCTCCCCCTCAG	0.592000													28	100					0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65640032	65640032	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:65640032C>G	ENST00000308330.2	+	13	2689	c.2663C>G	c.(2662-2664)tCa>tGa	p.S888*		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	888	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTGAAGCCATCAAATAAACAT	0.403000													36	226					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19130297	19130297	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:19130297C>G	ENST00000252137.6	-	2	289	c.246G>C	c.(244-246)caG>caC	p.Q82H		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	82					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)					TGATGGCAATCTGGCGCATCC	0.587000													75	175					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102661327	102661327	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:102661327C>G	ENST00000322340.5	+	2	351	c.302C>G	c.(301-303)cCt>cGt	p.P101R	WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000556511.2_Intron|WDR20_ENST00000558567.1_Missense_Mutation_p.P101R|WDR20_ENST00000557186.1_3'UTR|WDR20_ENST00000556807.1_Intron|WDR20_ENST00000424963.2_Intron|WDR20_ENST00000545563.1_5'UTR|WDR20_ENST00000342702.3_Missense_Mutation_p.P101R|WDR20_ENST00000299135.6_Intron|WDR20_ENST00000454394.2_Missense_Mutation_p.P101R|WDR20_ENST00000335263.5_Missense_Mutation_p.P101R	NM_001242415.1	NP_001229344.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	101										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GGAACACAGCCTACTTGTCAT	0.433000													19	97					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110565215	110565215	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:110565215C>T	ENST00000242591.5	+	2	536	c.30C>T	c.(28-30)gaC>gaT	p.D10D	IFT81_ENST00000361948.4_Silent_p.D10D|IFT81_ENST00000552912.1_Silent_p.D10D	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	10					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TCATTATGGACAGTCTCAATA	0.313000													4	13					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58006895	58006895	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:58006895G>A	ENST00000286494.4	+	2	740	c.280G>A	c.(280-282)Gag>Aag	p.E94K	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.E133K	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	94					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGTGGAAACTGAGGCAGACAG	0.582000													10	21					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985381	140985381	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:140985381C>A	ENST00000544766.1	+	5	1470	c.943C>A	c.(943-945)Cct>Act	p.P315T	MAGEC3_ENST00000409007.1_Missense_Mutation_p.P315T|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P235T|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.P315T	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	37	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CAACAGTGCTCCTCCACGTTA	0.488000													30	39					1.75199e-13	1.86319e-13	1	1	0
SEMA3E	9723	broad.mit.edu	37	7	83031949	83031949	+	Splice_Site	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:83031949G>C	ENST00000307792.3	-	10	1609	c.1142C>G	c.(1141-1143)tCt>tGt	p.S381C	SEMA3E_ENST00000427262.1_Splice_Site_p.S321C	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	381	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TAAACTTACAGAACCAGGCCT	0.358000													23	60					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058048	56058048	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:56058048C>G	ENST00000313022.2	-	1	518	c.491G>C	c.(490-492)aGa>aCa	p.R164T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAAATGCAGTCTGCTCATCCA	0.438000													34	74					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218766	134218766	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:134218766G>T	ENST00000305233.5	+	2	821	c.762G>T	c.(760-762)aaG>aaT	p.K254N	PWWP2B_ENST00000368609.4_Missense_Mutation_p.K254N	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	254										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGGTCATCAAGATCTCCTACA	0.716000													13	27					0.00185496	0.00187856	1	1	0
ISL1	3670	broad.mit.edu	37	5	50683546	50683546	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:50683546C>T	ENST00000230658.7	+	3	1026	c.441C>T	c.(439-441)ctC>ctT	p.L147L	ISL1_ENST00000511384.1_Silent_p.L147L|ISL1_ENST00000505475.2_3'UTR	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	147					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GCGACCCGCTCAGTCCCCTGC	0.662000													23	79					0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33041303	33041303	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:33041303C>G	ENST00000419277.1	-	2	174	c.45G>C	c.(43-45)ttG>ttC	p.L15F	HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.L15F|HLA-DPA1_ENST00000463066.1_5'UTR	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	15					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						AGAGGGCTCTCAAGATCACAG	0.552000													69	145					0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129156623	129156623	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:129156623C>G	ENST00000429544.2	-	2	470	c.275G>C	c.(274-276)aGa>aCa	p.R92T	MBD4_ENST00000507208.1_Missense_Mutation_p.R92T|MBD4_ENST00000249910.1_Missense_Mutation_p.R92T|MBD4_ENST00000503197.1_Missense_Mutation_p.R92T|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_5'UTR	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	92	MBD.				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTTCACAACTCTTTCCCATCC	0.423000								Base excision repair (BER), DNA glycosylases					58	162					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204402481	204402481	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:204402481G>A	ENST00000367187.3	-	27	4472	c.3916C>T	c.(3916-3918)Cag>Tag	p.Q1306*	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.Q1278*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1306	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCTGTATCCTGAGGCCTCAGG	0.517000													13	53					0	0	1	0	0
GNB4	59345	broad.mit.edu	37	3	179123158	179123158	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:179123158C>G	ENST00000232564.3	-	9	1022	c.736G>C	c.(736-738)Gat>Cat	p.D246H	GNB4_ENST00000468623.1_Missense_Mutation_p.D246H	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	246					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GTGGCATCATCAGAGCCAGTG	0.408000													23	55					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53573081	53573081	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:53573081G>C	ENST00000601421.1	-	3	1474	c.598C>G	c.(598-600)Cat>Gat	p.H200D	ZNF160_ENST00000599056.1_Missense_Mutation_p.H236D|ZNF160_ENST00000429604.1_Missense_Mutation_p.H236D|ZNF160_ENST00000418871.1_Missense_Mutation_p.H236D			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	236					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTAAGTTCATGATATTTTTTA	0.368000													67	155					0	0	1	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44816352	44816352	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:44816352G>A	ENST00000260327.4	+	13	1944	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	CTDSPL2_ENST00000558966.1_Missense_Mutation_p.D461N|CTDSPL2_ENST00000558373.1_Missense_Mutation_p.D389N|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.D389N	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	461							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TCGCTTGCATGATTTGCTGCC	0.393000													41	72					0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39239431	39239431	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:39239431G>A	ENST00000333039.2	-	1	556	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	145						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGGTCGGCGCGGATGCGCGCC	0.781000													3	8					0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44096790	44096790	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:44096790C>T	ENST00000422989.1	-	3	1415	c.1260G>A	c.(1258-1260)acG>acA	p.T420T	IRGQ_ENST00000602269.1_Silent_p.T420T|IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	420							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCACCTCCCACGTCTCGTCCT	0.682000													9	183					0	0	1	0	0
SLC25A29	123096	broad.mit.edu	37	14	100758893	100758893	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:100758893G>C	ENST00000554912.1	-	2	3728	c.441C>G	c.(439-441)gtC>gtG	p.V147V	SLC25A29_ENST00000555927.1_Silent_p.V147V|SLC25A29_ENST00000539621.1_Silent_p.V147V|RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000556505.1_Silent_p.V147V|SLC25A29_ENST00000392908.3_3'UTR|SLC25A29_ENST00000359232.3_Silent_p.V213V			Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	213						integral to membrane|mitochondrial inner membrane	binding			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GCCGCGACTTGACCACGTCCA	0.711000													4	23					0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50617584	50617584	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:50617584G>T	ENST00000395842.2	+	3	1912	c.1912G>T	c.(1912-1914)Gag>Tag	p.E638*	PANX2_ENST00000159647.5_Intron	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	638					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCGGGAGGAGGAGGACGGGGG	0.687000													16	52					0.000422831	0.000429122	1	1	0
CDCP2	200008	broad.mit.edu	37	1	54606979	54606979	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:54606979C>T	ENST00000371330.1	-	3	1402	c.555G>A	c.(553-555)ctG>ctA	p.L185L	RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	185	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCACGAACACCAGCTTGACGT	0.622000													21	44					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155340689	155340689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:155340689G>A	ENST00000368346.3	-	11	7072	c.6433C>T	c.(6433-6435)Caa>Taa	p.Q2145*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.Q2140*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2145	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTAGACATTGCACCCATTCA	0.468000													17	119					0	0	1	0	0
LAG3	3902	broad.mit.edu	37	12	6886587	6886587	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:6886587C>G	ENST00000203629.2	+	6	1548	c.1215C>G	c.(1213-1215)ctC>ctG	p.L405L		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	405	Ig-like C2-type 3.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGGCCCAGCTCCTTTCCCAGC	0.592000													31	91					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32835834	32835834	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:32835834G>C	ENST00000380250.3	+	52	7994	c.7498G>C	c.(7498-7500)Gag>Cag	p.E2500Q		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCAGATTCTGGAGGAGCGCCA	0.517000													11	71					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21036238	21036238	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:21036238G>C	ENST00000247986.2	-	4	874	c.564C>G	c.(562-564)atC>atG	p.I188M	KIF17_ENST00000375044.1_Missense_Mutation_p.I88M|KIF17_ENST00000400463.3_Missense_Mutation_p.I188M			Q9P2E2	KIF17_HUMAN	kinesin family member 17	188	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CAGTCTCCATGATGTGCTCAC	0.577000													10	78					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37365276	37365276	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:37365276C>G	ENST00000361924.2	+	14	2273	c.1899C>G	c.(1897-1899)gtC>gtG	p.V633V	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.V655V	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	633	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AACTCCAAGTCTTAAAGCAAC	0.378000													30	67					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135310052	135310052	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:135310052C>A	ENST00000285968.6	+	32	4646	c.4620C>A	c.(4618-4620)ctC>ctA	p.L1540L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1540					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGAGCTTACTCACCCCACAGC	0.403000													43	127					3.05275e-18	3.29793e-18	1	1	0
RAPGEF6	51735	broad.mit.edu	37	5	130808290	130808290	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:130808290G>C	ENST00000509018.1	-	17	2434	c.2229C>G	c.(2227-2229)tcC>tcG	p.S743S	RAPGEF6_ENST00000296859.6_Silent_p.S743S|RAPGEF6_ENST00000307984.5_Silent_p.S743S|RAPGEF6_ENST00000507093.1_Silent_p.S743S|RAPGEF6_ENST00000512052.1_Silent_p.S458S|RAPGEF6_ENST00000510071.1_Silent_p.S743S|CTC-432M15.3_ENST00000514667.1_Silent_p.S793S|RAPGEF6_ENST00000308008.6_Silent_p.S743S	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	743					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTGAAGGATTGGAAAAATCCA	0.438000													13	34					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48456746	48456746	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:48456746C>G	ENST00000358536.4	-	20	4074	c.3805G>C	c.(3805-3807)Gag>Cag	p.E1269Q	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E1086Q|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E1086Q|PLXNB1_ENST00000296440.6_Missense_Mutation_p.E1269Q	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1269	IPT/TIG 3.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACGCATATCTCACGTCCTCCA	0.577000													12	35					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65871611	65871611	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:65871611G>A	ENST00000395325.3	+	16	2272	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P	DNAJC6_ENST00000263441.7_Silent_p.P692P|DNAJC6_ENST00000371069.4_Silent_p.P762P	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	705	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GAGGATTCCCGCCTCTCAGCT	0.537000													31	50					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187198	140187198	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:140187198C>G	ENST00000530339.1	+	1	426	c.426C>G	c.(424-426)atC>atG	p.I142M	PCDHA4_ENST00000512229.2_Missense_Mutation_p.I142M|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.I142M|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1												p.I142I(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGTCCATCGCGGAATCCA	0.567000													61	135					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70508570	70508570	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:70508570G>C	ENST00000288078.6	+	17	2360	c.2128G>C	c.(2128-2130)Gag>Cag	p.E710Q	FUK_ENST00000378912.2_Missense_Mutation_p.E742Q|FUK_ENST00000571514.1_Missense_Mutation_p.E201Q	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	710						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGTGGTGGCTGAGTGCCCGGC	0.637000													5	14					0	0	1	0	0
KRT8	3856	broad.mit.edu	37	12	53295784	53295784	+	Nonsense_Mutation	SNP	G	G	A	rs141850020		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:53295784G>A	ENST00000552551.1	-	3	829	c.397C>T	c.(397-399)Cga>Tga	p.R133*	KRT8_ENST00000552150.1_Nonsense_Mutation_p.R161*|KRT8_ENST00000546897.1_Nonsense_Mutation_p.R133*|KRT8_ENST00000293308.6_Nonsense_Mutation_p.R133*			P05787	K2C8_HUMAN	keratin 8	133	Linker 1.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGTTGCTTCGAGCCGTCTTC	0.557000													20	81					0	0	1	0	0
RTP4	64108	broad.mit.edu	37	3	187089033	187089033	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:187089033G>A	ENST00000259030.2	+	2	723	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	205					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCAGTCAGCTGAGGCAAAAGA	0.488000													21	70					0	0	1	0	0
PRMT6	55170	broad.mit.edu	37	1	107599529	107599529	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:107599529C>T	ENST00000361318.5	+	1	263	c.15C>T	c.(13-15)cgC>cgT	p.R5R	PRMT6_ENST00000370078.1_Silent_p.R64R	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	64					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		TCGCGGACCGCGTCCGCACCG	0.657000													14	41					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79934557	79934557	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:79934557G>T	ENST00000360280.3	+	42	5643	c.5383G>T	c.(5383-5385)Gag>Tag	p.E1795*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.E1756*|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.E1795*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.E1795*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1795					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGATCAGACTGAGGATTTTAG	0.274000													8	16					1.12685e-05	1.15342e-05	1	1	0
FZD2	2535	broad.mit.edu	37	17	42636667	42636667	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:42636667C>G	ENST00000315323.3	+	1	1743	c.1611C>G	c.(1609-1611)ttC>ttG	p.F537L		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	537					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGTCGGGCTTCTGGATCTGGT	0.622000													9	32					0	0	1	0	0
ZMYND12	84217	broad.mit.edu	37	1	42914297	42914297	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:42914297C>G	ENST00000372565.3	-	3	534	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q	ZMYND12_ENST00000433602.2_Intron	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	89						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TAGCAGAATTCAATCAAATAC	0.463000													15	78					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338675	5338675	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:5338675C>T	ENST00000396872.3	+	8	1100	c.939C>T	c.(937-939)caC>caT	p.H313H	SLC29A4_ENST00000297195.4_Silent_p.H313H|SLC29A4_ENST00000406453.3_Silent_p.H299H			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	p.H313H(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCCAGCCCACGAGGTGACCG	0.692000													4	63					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	23					0.00024832	0.000252283	1	1	0
MAN2B2	23324	broad.mit.edu	37	4	6599955	6599955	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:6599955G>A	ENST00000285599.3	+	9	1315	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K	MAN2B2_ENST00000504248.1_Missense_Mutation_p.E376K	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	427					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						CACTGGGACTGAGTCCCCCAA	0.602000													19	73					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129231226	129231226	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:129231226C>T	ENST00000296266.3	+	25	3303	c.3111C>T	c.(3109-3111)ccC>ccT	p.P1037P	IFT122_ENST00000348417.2_Silent_p.P986P|IFT122_ENST00000507564.1_Silent_p.P979P|IFT122_ENST00000349441.2_Silent_p.P876P|IFT122_ENST00000347300.2_Silent_p.P927P|IFT122_ENST00000431818.2_Silent_p.P836P|IFT122_ENST00000504021.1_Silent_p.P863P|IFT122_ENST00000440957.2_Silent_p.P777P	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	986					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ACAGCCTGCCCAAGGACACCC	0.512000													86	203					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33532834	33532834	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:33532834C>T	ENST00000228567.3	-	6	1729	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	SYT10_ENST00000535526.1_Missense_Mutation_p.R297Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	478						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCAGTGGTCTCGCCCAAGACC	0.458000													41	136					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98451309	98451309	+	Missense_Mutation	SNP	A	A	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:98451309A>C	ENST00000186436.5	-	9	1112	c.884T>G	c.(883-885)aTa>aGa	p.I295R	TMEM131_ENST00000425805.2_Missense_Mutation_p.I246R	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	295						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTTTATTCTTATGAAGGCTGT	0.383000													49	101					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160994698	160994698	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:160994698C>T	ENST00000283249.2	-	9	1357	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	ITGB6_ENST00000409872.1_Missense_Mutation_p.E374K|ITGB6_ENST00000409967.2_Missense_Mutation_p.E374K|ITGB6_ENST00000428609.2_Missense_Mutation_p.E332K	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	374					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGTTCCACCTCAGACCGCAGT	0.413000													31	131					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997021	82997021	+	Missense_Mutation	SNP	T	T	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:82997021T>C	ENST00000307792.3	-	17	2676	c.2209A>G	c.(2209-2211)Aga>Gga	p.R737G	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R677G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	737	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCCTCTTTCTATCTGTGCAC	0.473000													61	154					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230903402	230903402	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:230903402G>C	ENST00000354537.1	+	5	734	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	CAPN9_ENST00000366666.2_Missense_Mutation_p.E155Q|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.E218Q	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	218	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GAACTTCTATGAGATTCTAGA	0.547000													30	119					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22041888	22041888	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:22041888G>A	ENST00000308271.9	-	15	2605	c.1957C>T	c.(1957-1959)Cca>Tca	p.P653S	USP48_ENST00000529637.1_Missense_Mutation_p.P652S|USP48_ENST00000374732.3_Missense_Mutation_p.P191S|USP48_ENST00000400301.1_Missense_Mutation_p.P653S	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	653	DUSP 2.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTACCATGTGGACACAGAATA	0.323000													6	23					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3424661	3424661	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:3424661C>T	ENST00000336727.3	+	12	3967	c.3063C>T	c.(3061-3063)atC>atT	p.I1021I	RGS12_ENST00000306648.7_Silent_p.I419I|RGS12_ENST00000344733.5_Silent_p.I1021I|RGS12_ENST00000382788.3_Silent_p.I1021I|RGS12_ENST00000338806.4_Silent_p.I373I|RGS12_ENST00000538395.1_Silent_p.I363I|RGS12_ENST00000508158.1_3'UTR	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1021	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACAGTAGCATCTTGGAGTCAA	0.592000													13	80					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63885483	63885483	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:63885483G>T	ENST00000246841.3	+	2	2787	c.1744G>T	c.(1744-1746)Gag>Tag	p.E582*	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	554					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CCAGGCTGGCGAGCTGCTGAC	0.627000													19	43					4.96729e-08	5.11733e-08	1	1	0
ZNF28	7576	broad.mit.edu	37	19	53304949	53304949	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:53304949G>C	ENST00000457749.2	-	4	268	c.149C>G	c.(148-150)tCt>tGt	p.S50C	ZNF28_ENST00000438150.2_5'UTR|ZNF28_ENST00000594602.1_Silent_p.L89L|ZNF28_ENST00000339844.6_Intron|ZNF28_ENST00000414252.2_5'UTR|ZNF28_ENST00000360272.4_5'UTR	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GCATTTGGAAGAGATATCTAC	0.353000													62	176					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484403	43484403	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:43484403G>A	ENST00000395891.2	+	11	2237	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	HECW1_ENST00000453890.1_Silent_p.T544T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCTGGAGACGGTGATCGCGT	0.672000													32	86					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57864360	57864360	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:57864360G>C	ENST00000228682.2	+	12	1928	c.1837G>C	c.(1837-1839)Ggt>Cgt	p.G613R	GLI1_ENST00000546141.1_Missense_Mutation_p.G572R|GLI1_ENST00000543426.1_Missense_Mutation_p.G485R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	613					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGATCGGATAGGTGGTCTTCC	0.617000													17	53					0	0	1	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238518	21238518	+	Missense_Mutation	SNP	A	A	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:21238518A>G	ENST00000326783.3	+	2	307	c.209A>G	c.(208-210)tAt>tGt	p.Y70C		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	70					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						ATGTTTATCTATATCTCATGG	0.403000													19	92					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85600102	85600102	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:85600102C>A	ENST00000322366.6	-	64	10473	c.10066G>T	c.(10066-10068)Gag>Tag	p.E3356*	WDFY3_ENST00000295888.4_Nonsense_Mutation_p.E3373*			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3373						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCCGCACCTCAATGGGATTG	0.498000													20	139					3.5997e-14	3.84102e-14	1	1	0
RELN	5649	broad.mit.edu	37	7	103131252	103131252	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:103131252C>T	ENST00000428762.1	-	59	9627	c.9468G>A	c.(9466-9468)caG>caA	p.Q3156Q	RELN_ENST00000343529.5_Silent_p.Q3156Q|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.Q3156Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3156					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGCACTGGGTCTGTACGAGCT	0.443000													31	64					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74785853	74785853	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:74785853G>A	ENST00000290536.5	-	11	1699	c.1583C>T	c.(1582-1584)tCa>tTa	p.S528L	M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Missense_Mutation_p.S177L|M1AP_ENST00000536235.1_Missense_Mutation_p.S524L|M1AP_ENST00000409585.1_Missense_Mutation_p.S524L	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2			meiosis 1 associated protein																		TTAGGGCCTTGAGGGATCCTT	0.537000													13	97					0	0	1	0	0
CDO1	1036	broad.mit.edu	37	5	115152055	115152055	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:115152055C>T	ENST00000250535.4	-	1	596	c.40G>A	c.(40-42)Gat>Aat	p.D14N	CDO1_ENST00000502631.1_Intron	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	14					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CGGATCAGATCAGCCAGGGTC	0.632000													80	235					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54967643	54967643	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:54967643C>G	ENST00000394636.4	+	3	1647	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	IRX5_ENST00000320990.5_Missense_Mutation_p.S436C|IRX5_ENST00000560154.1_Missense_Mutation_p.S217C|IRX5_ENST00000558597.1_Missense_Mutation_p.S371C			P78411	IRX5_HUMAN	iroquois homeobox 5	437					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGTCCGGGGTCTCATTTCAAT	0.587000													47	101					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52912911	52912911	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:52912911C>T	ENST00000252242.4	-	2	979	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	197	Coil 1A.|Rod.		D -> E (in dbSNP:rs641615).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTTGGTGTCCAGAACCTTG	0.532000													10	76					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77378123	77378123	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:77378123C>T	ENST00000308488.6	-	16	4467	c.4165G>A	c.(4165-4167)Gag>Aag	p.E1389K	RSF1_ENST00000480887.1_Missense_Mutation_p.E1137K|RSF1_ENST00000360355.2_Missense_Mutation_p.E1358K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1389					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGAGACTTCTCAGTAGGCTTG	0.542000													49	123					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928870	2928870	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:2928870G>C	ENST00000397461.1	+	9	1286	c.902G>C	c.(901-903)aGa>aCa	p.R301T	CNTN4_ENST00000427331.1_Missense_Mutation_p.R301T|CNTN4_ENST00000418658.1_Missense_Mutation_p.R301T|CNTN4_ENST00000358480.3_Missense_Mutation_p.R82T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	301	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAAAATTCCAGAGGGAAAAAT	0.373000													23	82					0	0	1	0	0
INPP5F	22876	broad.mit.edu	37	10	121586170	121586170	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:121586170C>T	ENST00000361976.2	+	20	2443	c.2277C>T	c.(2275-2277)atC>atT	p.I759I	INPP5F_ENST00000369080.3_Silent_p.I149I	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	759							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ACGAAGACATCATTGGTATCA	0.353000													51	125					0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9225771	9225771	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:9225771G>A	ENST00000328194.3	-	4	705	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	DENND5A_ENST00000530044.1_Missense_Mutation_p.R129W	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	129	UDENN.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCAAATGTCCGAGAGCCATCC	0.498000													25	42					0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57467431	57467431	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:57467431C>T	ENST00000287169.3	+	12	3438	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	ZDHHC5_ENST00000527985.1_Silent_p.L639L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	692						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AGCCACCTCTCAGTAGCCCCA	0.597000													26	55					0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102547646	102547646	+	Splice_Site	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:102547646G>A	ENST00000327680.2	+	5	607		c.e5-1		PARPBP_ENST00000378128.3_Splice_Site|PARPBP_ENST00000392911.2_Splice_Site|PARPBP_ENST00000541394.1_Splice_Site|PARPBP_ENST00000358383.5_Splice_Site|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000543784.1_Intron	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein						response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						GTTTTCTACAGAGTCAACTAC	0.343000													19	56					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136594257	136594257	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:136594257C>G	ENST00000531224.1	-	7	2173	c.1921G>C	c.(1921-1923)Gaa>Caa	p.E641Q	BCLAF1_ENST00000527759.1_Missense_Mutation_p.E639Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E639Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E641Q|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E468Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E639Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	641					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTACTATGTTCTTCAGTGGCT	0.403000													30	256					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361290	105361290	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:105361290C>A	ENST00000297581.2	+	2	559	c.510C>A	c.(508-510)acC>acA	p.T170T	DCSTAMP_ENST00000517991.1_Silent_p.T170T|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	170					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.T170T(1)									GGAACCAGACCCTGGCAGTCT	0.453000													39	164					3.61848e-18	3.90469e-18	1	1	0
FBXL19	54620	broad.mit.edu	37	16	30941527	30941527	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:30941527C>T	ENST00000338343.4	+	7	1310	c.923C>T	c.(922-924)tCg>tTg	p.S308L	FBXL19_ENST00000562319.1_Missense_Mutation_p.S308L|FBXL19_ENST00000565690.1_Missense_Mutation_p.S192L|FBXL19_ENST00000471231.2_Missense_Mutation_p.S16L|FBXL19_ENST00000380310.2_Missense_Mutation_p.S328L			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	328							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TCTTCCTCCTCGGACTCAGAC	0.677000													55	93					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42302198	42302198	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:42302198G>C	ENST00000342228.3	-	6	1065	c.696C>G	c.(694-696)ctC>ctG	p.L232L	SLC20A2_ENST00000520179.1_Silent_p.L232L|SLC20A2_ENST00000520262.1_Silent_p.L232L	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	232					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GACACACGAAGAGCCACACAA	0.483000													40	66					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84286834	84286834	+	Splice_Site	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:84286834G>A	ENST00000324537.5	+	12	1355	c.863G>A	c.(862-864)gGt>gAt	p.G288D	SH3GL3_ENST00000427482.2_Splice_Site_p.G280D|SH3GL3_ENST00000535412.1_3'UTR|SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000434347.1_Splice_Site_p.G288D			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	280	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ATGTGGACAGGTTCTAACATT	0.428000													27	59					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205277762	205277762	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:205277762C>T	ENST00000367157.3	-	3	577	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	151	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGCCTAGCTTCGCGCTCACTG	0.562000													10	62					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440449	40440449	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:40440449G>C	ENST00000319592.4	-	4	1171	c.462C>G	c.(460-462)ttC>ttG	p.F154L	RBM47_ENST00000514014.1_Missense_Mutation_p.F116L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.F154L|RBM47_ENST00000295971.7_Missense_Mutation_p.F154L|RBM47_ENST00000381793.2_Missense_Mutation_p.F154L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	154	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCCCGCCGATGAAGAGGCGGC	0.647000													27	59					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490864	100490864	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:100490864G>A	ENST00000302913.4	-	2	1128	c.990C>T	c.(988-990)ttC>ttT	p.F330F	ACHE_ENST00000411582.1_Silent_p.F330F|ACHE_ENST00000412389.1_Silent_p.F330F|ACHE_ENST00000241069.5_Silent_p.F330F|ACHE_ENST00000428317.1_Silent_p.F330F|ACHE_ENST00000419336.2_Silent_p.F330F	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	330					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCACAGGCACGAAGGAGAACC	0.597000													19	55					0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71804310	71804310	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:71804310G>C	ENST00000304411.2	+	1	1110	c.1110G>C	c.(1108-1110)ctG>ctC	p.L370L		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	370						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CCTGCGACCTGAAAGGCATTG	0.617000													4	21					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34985320	34985320	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:34985320G>C	ENST00000374789.3	-	2	473	c.148C>G	c.(148-150)Cgc>Ggc	p.R50G	PARD3_ENST00000374773.1_Missense_Mutation_p.R50G|PARD3_ENST00000374790.3_Missense_Mutation_p.R50G|PARD3_ENST00000346874.4_Missense_Mutation_p.R50G|PARD3_ENST00000545693.1_Missense_Mutation_p.R50G|PARD3_ENST00000374788.3_Missense_Mutation_p.R50G|PARD3_ENST00000374794.3_Missense_Mutation_p.R50G|PARD3_ENST00000374776.1_Missense_Mutation_p.R50G|PARD3_ENST00000545260.1_Missense_Mutation_p.R50G|PARD3_ENST00000350537.4_Missense_Mutation_p.R50G|PARD3_ENST00000340077.5_Missense_Mutation_p.R50G	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	50					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.R50G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGTTCCAAGCGATGCACCTGT	0.418000													44	274					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713956	142713956	+	RNA	SNP	G	G	A	rs12161184	by1000genomes	TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:142713956G>A	ENST00000610091.1	-	0	1702																											AAGTTAAAGAGTAACCTGCAC	0.308000													3	20					0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31548683	31548683	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:31548683C>G	ENST00000429299.2	-	4	545	c.538G>C	c.(538-540)Gag>Cag	p.E180Q	LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	180					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	TCGGCGCCCTCGAGCAGCAGC	0.741000													4	11					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39879605	39879605	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:39879605C>T	ENST00000260356.5	+	8	1343	c.1178C>T	c.(1177-1179)aCg>aTg	p.T393M		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	393	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCCTGTTCTACGAGCTGTGGC	0.587000													16	60					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117301488	117301488	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:117301488G>A	ENST00000321322.6	-	32	5817	c.5816C>T	c.(5815-5817)gCg>gTg	p.A1939V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A1669V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1879					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCCCGGTCCGCATCCTGGGG	0.657000													5	301					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227985737	227985737	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:227985737C>A	ENST00000396625.3	-	5	527	c.320G>T	c.(319-321)gGa>gTa	p.G107V	COL4A4_ENST00000329662.7_Missense_Mutation_p.G107V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	107	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TACCTTATCTCCTTTGTCCCC	0.498000													7	78					1.76689e-08	1.82617e-08	1	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12836179	12836179	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:12836179C>G	ENST00000357726.4	+	2	808	c.781C>G	c.(781-783)Cag>Gag	p.Q261E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	261										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCACCTCTCAGTTCCTCAA	0.507000													45	97					0	0	1	0	0
IL20	50604	broad.mit.edu	37	1	207039275	207039275	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:207039275G>C	ENST00000367098.1	+	2	441	c.78G>C	c.(76-78)aaG>aaC	p.K26N	IL20_ENST00000391930.2_Missense_Mutation_p.K26N|IL20_ENST00000367096.3_Missense_Mutation_p.K26N			Q9NYY1	IL20_HUMAN	interleukin 20	26					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		CTGGACTGAAGACACTCAATT	0.478000													16	87					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70227936	70227936	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:70227936G>T	ENST00000342771.4	+	7	1144	c.823G>T	c.(823-825)Gag>Tag	p.E275*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.E275*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	275										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ATCGGGTCTAGAGAGAAGCCA	0.552000													73	211					7.1157e-29	7.78407e-29	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21639562	21639562	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:21639562C>T	ENST00000328843.6	+	15	2856	c.2825C>T	c.(2824-2826)cCg>cTg	p.P942L	DNAH11_ENST00000409508.3_Missense_Mutation_p.P942L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	942	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAACCGGCACCGTTTTTTCAA	0.413000									Kartagener syndrome				18	38					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74351436	74351436	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:74351436C>G	ENST00000355773.5	-	3	771	c.503G>C	c.(502-504)aGa>aCa	p.R168T	SLC17A5_ENST00000393019.3_Missense_Mutation_p.R168T|SLC17A5_ENST00000481996.1_5'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	168					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCTAGTGCTCTGAGTACAAT	0.438000													55	162					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42481342	42481342	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:42481342C>G	ENST00000318006.5	-	5	474	c.312G>C	c.(310-312)aaG>aaC	p.K104N	VPS39_ENST00000348544.4_Missense_Mutation_p.K115N	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	115	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		GTGATGCTCCCTTTGCCTTTG	0.373000													23	92					0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75065564	75065564	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:75065564G>A	ENST00000395759.2	+	4	532	c.505G>A	c.(505-507)Gat>Aat	p.D169N	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.D111N|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.D111N|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.D34N	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	111					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			AAAAGATGTAGATGGATTTCA	0.328000													48	90					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248845594	248845594	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:248845594G>C	ENST00000342623.3	-	1	35	c.12C>G	c.(10-12)ctC>ctG	p.L4L		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TCACTTTTGTGAGATTGTCCA	0.433000													10	32					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1615465	1615465	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:1615465C>G	ENST00000262965.5	-	18	1985	c.1641G>C	c.(1639-1641)gaG>gaC	p.E547D	TCF3_ENST00000453954.2_Intron|TCF3_ENST00000395423.3_Missense_Mutation_p.E551D|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	547					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCTCCTTCTCCCGCTCGG	0.672000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								41	146					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188186	57188186	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:57188186G>A	ENST00000331162.4	-	5	1206	c.936C>T	c.(934-936)ctC>ctT	p.L312L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGTGGTCAGTGAGGGTTGAGG	0.463000													17	66					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836222	12836222	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:12836222C>G	ENST00000357726.4	+	2	851	c.824C>G	c.(823-825)tCt>tGt	p.S275C		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	275										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TACATGCACTCTGTCTCTTTC	0.498000													48	98					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89929898	89929898	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:89929898C>A	ENST00000378247.3	+	11	1633	c.1590C>A	c.(1588-1590)ccC>ccA	p.P530P	SPIRE2_ENST00000393062.2_Silent_p.P530P	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	530					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TCAGCCACCCCGTGGAGAGCC	0.582000													16	56					5.35267e-07	5.5084e-07	1	1	0
CDC7	8317	broad.mit.edu	37	1	91980413	91980413	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:91980413G>A	ENST00000428239.1	+	9	1215	c.956G>A	c.(955-957)aGa>aAa	p.R319K	CDC7_ENST00000430031.2_Missense_Mutation_p.R291K|CDC7_ENST00000234626.6_Missense_Mutation_p.R319K	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	319	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GTACTGTCTAGAAAGTTAGCA	0.368000													11	67					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131673	66131673	+	RNA	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:66131673C>G	ENST00000590019.1	-	0	298																											TTGGTCCCCTCAGCCCCTCCG	0.587000													42	111					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46708049	46708049	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:46708049G>C	ENST00000454366.1	+	5	986	c.774G>C	c.(772-774)gaG>gaC	p.E258D		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	239					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCAAGAAAGAGATTCCAGCTA	0.493000													23	62					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73038787	73038787	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:73038787C>T	ENST00000313375.3	-	1	83	c.36G>A	c.(34-36)ttG>ttA	p.L12L	MLXIPL_ENST00000414749.2_Silent_p.L12L|MLXIPL_ENST00000434326.1_Silent_p.L12L|MLXIPL_ENST00000354613.1_Silent_p.L12L|MLXIPL_ENST00000429400.2_Silent_p.L12L|MLXIPL_ENST00000395189.1_Silent_p.L12L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	12					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCGGGACCTGCAAGCCCGCGG	0.756000													7	9					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063249	9063249	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:9063249G>C	ENST00000397910.4	-	3	24400	c.24197C>G	c.(24196-24198)tCt>tGt	p.S8066C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8068	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCATGTCCAGAACTGGAGGT	0.473000													35	124					0	0	1	0	0
MAD2L1BP	9587	broad.mit.edu	37	6	43608145	43608145	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:43608145G>A	ENST00000451025.2	+	4	1006	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	MAD2L1BP_ENST00000372171.4_Missense_Mutation_p.V234M	NM_001003690.1	NP_001003690.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	234					mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding			breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CAACTATCGAGTGCCCAGCCG	0.567000													13	46					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532738	92532738	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:92532738G>C	ENST00000298047.6	+	9	6576	c.6559G>C	c.(6559-6561)Gat>Cat	p.D2187H	FAT3_ENST00000409404.2_Missense_Mutation_p.D2187H|FAT3_ENST00000525166.1_Missense_Mutation_p.D2037H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2187	Cadherin 20.				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)				GCCTGTGTTTGATAAGCCCTT	0.448000										TCGA Ovarian(4;0.039)			12	28					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49348654	49348654	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:49348654G>C	ENST00000263265.6	-	16	2271	c.1716C>G	c.(1714-1716)caC>caG	p.H572Q	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.H547Q	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	572						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGAAGGGAGGTGGCGACCCT	0.577000													54	101					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38136997	38136997	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:38136997C>G	ENST00000406386.3	+	11	5535	c.5280C>G	c.(5278-5280)ttC>ttG	p.F1760L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1760					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)					CCACGCTGTTCAATCCGTTCC	0.667000													6	9					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348059	89348059	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:89348059G>A	ENST00000301030.4	-	9	5351	c.4891C>T	c.(4891-4893)Cgg>Tgg	p.R1631W	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1631W	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1631	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCCTTCTTCCGCCCGTCGTCT	0.577000													76	158					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21640365	21640365	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:21640365C>T	ENST00000328843.6	+	16	3103	c.3072C>T	c.(3070-3072)atC>atT	p.I1024I	DNAH11_ENST00000409508.3_Silent_p.I1024I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1024	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAATGTCATCAACAAAGTCT	0.438000									Kartagener syndrome				87	219					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87723369	87723369	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:87723369C>G	ENST00000284262.2	+	4	1645	c.1403C>G	c.(1402-1404)tCc>tGc	p.S468C	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	468					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ACCACTCCCTCCGACCTGACC	0.716000													15	32					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114302141	114302141	+	Missense_Mutation	SNP	A	A	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:114302141A>T	ENST00000408937.3	+	15	2118	c.1744A>T	c.(1744-1746)Agc>Tgc	p.S582C	FOXP2_ENST00000403559.4_Missense_Mutation_p.S574C|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393494.2_Missense_Mutation_p.S557C|FOXP2_ENST00000393498.2_Missense_Mutation_p.S536C|FOXP2_ENST00000393491.3_Missense_Mutation_p.S372C|FOXP2_ENST00000350908.4_Missense_Mutation_p.S557C|FOXP2_ENST00000393489.3_Missense_Mutation_p.S465C	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	557					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCATAATCTTAGCCTGCACAA	0.368000													20	42					0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37591946	37591946	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:37591946G>A	ENST00000284437.6	+	3	447	c.269G>A	c.(268-270)gGa>gAa	p.G90E	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.G90E	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	90								p.G90V(1)		large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GGGGACGCTGGAGGGGAACAC	0.657000													24	54					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502336	94502336	+	Silent	SNP	C	C	T	rs142715811		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:94502336C>T	ENST00000370225.3	-	26	3908	c.3822G>A	c.(3820-3822)ctG>ctA	p.L1274L		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1274					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCGTGACCTTCAGAAAAATCT	0.438000													35	179					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597120	136597120	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:136597120G>C	ENST00000531224.1	-	5	1795	c.1543C>G	c.(1543-1545)Cta>Gta	p.L515V	BCLAF1_ENST00000527759.1_Missense_Mutation_p.L513V|BCLAF1_ENST00000392348.2_Missense_Mutation_p.L513V|BCLAF1_ENST00000527536.1_Missense_Mutation_p.L515V|BCLAF1_ENST00000530767.1_Missense_Mutation_p.L342V|BCLAF1_ENST00000353331.4_Missense_Mutation_p.L513V	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	515					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCTTGTGTAGAGGGGGACTG	0.413000													35	255					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71318535	71318535	+	Missense_Mutation	SNP	A	A	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:71318535A>T	ENST00000370932.2	-	3	1315	c.1085T>A	c.(1084-1086)tTt>tAt	p.F362Y	PTGER3_ENST00000460330.1_Missense_Mutation_p.F371Y|PTGER3_ENST00000370931.3_3'UTR|PTGER3_ENST00000351052.5_3'UTR	NM_198717.1	NP_942010.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	362					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	ATTTCCCCAAAATTCCTCCTG	0.323000													101	236					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121785560	121785560	+	Missense_Mutation	SNP	C	C	T	rs147147229		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:121785560C>T	ENST00000261367.7	+	11	3182	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	SNCAIP_ENST00000379533.2_Missense_Mutation_p.T585M|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.T478M|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.T538M|SNCAIP_ENST00000414317.2_Missense_Mutation_p.T140M|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.T172M|SNCAIP_ENST00000542191.1_Missense_Mutation_p.T96M|CTC-210G5.1_ENST00000509993.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	538					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GAACGTGTCACGCTGCAGAAC	0.413000													76	195					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304655	3304655	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:3304655C>G	ENST00000219596.1	-	2	452	c.413G>C	c.(412-414)gGa>gCa	p.G138A	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	138			G -> A (association with renal amyloidosis).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCTGGCAGCTCCGCCCCCGTA	0.716000													17	16					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67079350	67079350	+	Missense_Mutation	SNP	G	G	A	rs78494651	by1000genomes	TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:67079350G>A	ENST00000308127.4	+	14	2150	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	SSH3_ENST00000308298.7_Missense_Mutation_p.E393K|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	658					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGAGGAGGGCGAGGCCTGAGC	0.627000													22	96					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67663552	67663552	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:67663552G>A	ENST00000545606.1	+	1	492	c.55G>A	c.(55-57)Gac>Aac	p.D19N	CAND1_ENST00000539109.1_3'UTR	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	19					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GACATCCAGCGACAAGGACTT	0.642000													33	38					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139115682	139115682	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:139115682G>A	ENST00000358701.5	-	5	639	c.602C>T	c.(601-603)tCc>tTc	p.S201F		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	201					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.S201F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GTCAAGAAGGGAAAGAACATC	0.527000													22	40					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44387332	44387332	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:44387332C>G	ENST00000371477.3	+	9	1538	c.1239C>G	c.(1237-1239)ttC>ttG	p.F413L		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	413	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTACTCCATTCAGGTATTGTA	0.368000													21	68					0	0	1	0	0
GSTT1	2952	broad.mit.edu	37	22	24376926	24376926	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:24376926C>T	ENST00000248935.5	-	4	476	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	GSTT1_ENST00000439996.2_Missense_Mutation_p.V24M	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	142	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	TGCAGGGTCACATCCAACTCT	0.567000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				26	71					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46318605	46318605	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:46318605C>T	ENST00000465950.1	-	2	4076	c.2867G>A	c.(2866-2868)aGt>aAt	p.S956N	SCAF11_ENST00000419565.2_Missense_Mutation_p.S1271N|SCAF11_ENST00000549162.1_Missense_Mutation_p.S1079N|SCAF11_ENST00000369367.3_Missense_Mutation_p.S1271N			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1271	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTGAGATACACTGGTAGGAGT	0.507000													19	85					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377849	77377849	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:77377849G>C	ENST00000451710.3	-	26	3975	c.3738C>G	c.(3736-3738)tgC>tgG	p.C1246W	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.C1246W|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.C1241W|TRPM6_ENST00000376864.4_Missense_Mutation_p.C1246W|TRPM6_ENST00000449912.2_Missense_Mutation_p.C1241W			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1246					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAAGTTTTTTGCAAGTAGAAT	0.483000													40	71					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164755726	164755726	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:164755726G>A	ENST00000264382.3	-	21	2450	c.2388C>T	c.(2386-2388)atC>atT	p.I796I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	796	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAATGGGGATGATATAACCTC	0.323000										HNSCC(35;0.089)			5	23					0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97976466	97976466	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:97976466C>G	ENST00000224337.5	-	7	691	c.550G>C	c.(550-552)Gat>Cat	p.D184H	BLNK_ENST00000371176.2_Missense_Mutation_p.D184H|BLNK_ENST00000427367.2_Missense_Mutation_p.D184H|BLNK_ENST00000413476.2_Missense_Mutation_p.D184H	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	184	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TCATCATTATCTTCCACGGGG	0.383000													13	32					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478201	42478201	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:42478201C>G	ENST00000434000.1	-	9	1292	c.1010G>C	c.(1009-1011)aGa>aCa	p.R337T	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R415T			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	415						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTCACTGGCTCTCATAAAAAG	0.458000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	174					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137750829	137750829	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:137750829G>C	ENST00000314358.5	+	12	3408	c.3208G>C	c.(3208-3210)Gag>Cag	p.E1070Q	KDM3B_ENST00000394866.1_Missense_Mutation_p.E726Q|KDM3B_ENST00000542866.1_Missense_Mutation_p.E102Q	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1070					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						AGAGACAGAAGAGATGGGTGA	0.418000													39	73					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219618351	219618351	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:219618351G>C	ENST00000392102.1	+	19	3643	c.3303G>C	c.(3301-3303)gtG>gtC	p.V1101V	TTLL4_ENST00000457313.1_Silent_p.V936V|TTLL4_ENST00000442769.1_Silent_p.V1037V|TTLL4_ENST00000258398.4_Silent_p.V1101V	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1101					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGGATGACGTGATACTCAATG	0.522000													57	242					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122761692	122761692	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:122761692G>C	ENST00000245838.8	-	23	2640	c.2609C>G	c.(2608-2610)tCc>tGc	p.S870C	THOC2_ENST00000491737.1_Missense_Mutation_p.S755C|THOC2_ENST00000355725.4_Missense_Mutation_p.S870C	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	870					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCAGACTTTGGAAACATGTAA	0.433000													34	28					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70589468	70589468	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:70589468C>T	ENST00000322773.4	+	2	111	c.9C>T	c.(7-9)ctC>ctT	p.L3L	COL19A1_ENST00000476656.1_3'UTR	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	3					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CAATGAGACTCACTGGCCCTT	0.433000													15	45					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60780399	60780399	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:60780399G>C	ENST00000335712.6	-	1	234	c.7C>G	c.(7-9)Cgc>Ggc	p.R3G	BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.R3G|BCL11A_ENST00000358510.4_Missense_Mutation_p.R3G|BCL11A_ENST00000359629.5_Missense_Mutation_p.R3G|BCL11A_ENST00000538214.1_Missense_Mutation_p.R3G	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	3	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCTTGCGGCGAGACATGGTG	0.592000			T	IGH@	B-CLL								10	44					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552876	43552876	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:43552876G>C	ENST00000430334.3	-	4	646	c.513C>G	c.(511-513)ctC>ctG	p.L171L	PLEKHM1_ENST00000421073.2_Silent_p.L82L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	171	RUN.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ACAAGGACGTGAGGCCCTGCA	0.602000													33	85					0	0	1	0	0
KRTAP4-1	85285	broad.mit.edu	37	17	39340933	39340933	+	Silent	SNP	A	A	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:39340933A>G	ENST00000398472.1	-	1	661	c.174T>C	c.(172-174)acT>acC	p.T58T				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	58	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].					keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGCGACAGCAAGTGGTCTGGC	0.652000													31	68					0	0	1	0	0
PM20D1	148811	broad.mit.edu	37	1	205801758	205801758	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:205801758G>A	ENST00000367136.4	-	11	1297	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	418						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CGGGAAGACGGACTGTACGGT	0.557000													20	48					0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406277	39406277	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:39406277G>A	ENST00000334109.2	+	1	339	c.305G>A	c.(304-306)aGa>aAa	p.R102K		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	102	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTGTACTGCAGAAGAACCTGC	0.627000													97	214					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579884	179579884	+	Missense_Mutation	SNP	A	A	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:179579884A>T	ENST00000589042.1	-	90	26253	c.26029T>A	c.(26029-26031)Tat>Aat	p.Y8677N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y8360N|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Y7433N|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8360	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCTTTATACCAAGAAACG	0.443000													78	178					0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139106381	139106381	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:139106381G>A	ENST00000332797.6	+	4	765	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	204										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		ATGTTCCATTGAACAGATGGA	0.393000													42	60					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122659895	122659895	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:122659895G>A	ENST00000284273.5	+	6	1234	c.859G>A	c.(859-861)Gag>Aag	p.E287K		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	287	SH3.					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GTCTCCAATGGAGCAGACCAG	0.522000													108	224					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224447	44224447	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:44224447G>A	ENST00000538577.1	-	2	297	c.56C>T	c.(55-57)tCa>tTa	p.S19L	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393812.3_Silent_p.F60F|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.F60F			Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTTCCGCCTGAAGTACTGCA	0.547000													97	236					0	0	1	0	0
HACL1	26061	broad.mit.edu	37	3	15621484	15621484	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:15621484G>A	ENST00000321169.5	-	9	1103	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.P220S|HACL1_ENST00000451445.2_Missense_Mutation_p.P164S|HACL1_ENST00000456194.2_Missense_Mutation_p.P219S	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	246					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						ATAGGGGTGGGCAAAAATGGC	0.443000													4	140					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48117849	48117849	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:48117849C>T	ENST00000311303.3	-	28	4309	c.3964G>A	c.(3964-3966)Gat>Aat	p.D1322N	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1322	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGGACGTGATCGCAGTTGAGA	0.502000													49	162					0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	211255	211255	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:211255G>A	ENST00000261601.7	+	16	1547	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	USP14_ENST00000400266.3_Missense_Mutation_p.E475K|USP14_ENST00000582707.1_Missense_Mutation_p.E451K|USP14_ENST00000383589.2_Missense_Mutation_p.E440K	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCGCAGAGTTGAAATAATGGA	0.378000													25	56					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44747199	44747199	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:44747199G>A	ENST00000222673.5	+	22	2857	c.2815G>A	c.(2815-2817)Gac>Aac	p.D939N	OGDH_ENST00000447398.1_Missense_Mutation_p.D950N|OGDH_ENST00000449767.1_Missense_Mutation_p.D935N|OGDH_ENST00000444676.1_Missense_Mutation_p.D954N|OGDH_ENST00000439616.2_Missense_Mutation_p.D789N|OGDH_ENST00000543843.1_Missense_Mutation_p.D890N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	939					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ATTCCCCTTTGACCTCCTGCT	0.547000													69	159					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131785559	131785559	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:131785559G>A	ENST00000392953.3	+	5	988	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E157K|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E157K|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.E157K|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.E86K	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	157					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	p.E157K(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CTGCGCTGACGAAGTGGGGAG	0.627000													20	31					0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48956192	48956192	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:48956192G>A	ENST00000253237.5	+	7	1484	c.1251G>A	c.(1249-1251)ctG>ctA	p.L417L		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	417						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		AGACCGAGCTGAAGGAGCTGC	0.697000													61	128					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213914550	213914550	+	Missense_Mutation	SNP	T	T	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:213914550T>C	ENST00000457361.1	-	5	629	c.461A>G	c.(460-462)aAc>aGc	p.N154S	IKZF2_ENST00000451136.2_Missense_Mutation_p.N128S|IKZF2_ENST00000413091.3_Missense_Mutation_p.N154S|IKZF2_ENST00000434687.1_Missense_Mutation_p.N154S|IKZF2_ENST00000374319.4_Missense_Mutation_p.N128S|IKZF2_ENST00000421754.2_Missense_Mutation_p.N128S|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Missense_Mutation_p.N160S	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	154					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCTCAGAAGGTTGCCCTTCTG	0.488000													13	38					0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70711734	70711734	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:70711734C>T	ENST00000338779.6	-	9	967	c.693G>A	c.(691-693)ctG>ctA	p.L231L		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	231	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GTTCTGCTGTCAGCACCACCA	0.652000													6	24					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598446	49598446	+	RNA	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:49598446G>A	ENST00000527477.1	+	0	1050																											TGTATCAGCCGTACACACAGA	0.408000													27	57					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37600118	37600118	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr21:37600118C>T	ENST00000399151.3	+	13	1693	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	536					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCAAGGTGCTCAGCAAAGTCC	0.562000													7	46					0	0	1	0	0
ZNHIT3	9326	broad.mit.edu	37	17	34851110	34851110	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:34851110C>T	ENST00000225410.4	+	5	395	c.330C>T	c.(328-330)ctC>ctT	p.L110L	ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000588253.1_Intron|ZNHIT3_ENST00000590858.1_Intron|ZNHIT3_ENST00000592616.1_Intron	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	110					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		ATCCACACCTCAGGCAGTTGA	0.428000													23	149					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80681589	80681589	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:80681589C>G	ENST00000307624.3	-	2	212	c.184G>C	c.(184-186)Gag>Cag	p.E62Q	ACOT12_ENST00000513751.1_Missense_Mutation_p.E62Q	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	62	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GCTGTCTCCTCAAACTGTATG	0.453000													21	47					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84706576	84706576	+	Nonstop_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:84706576G>C	ENST00000567476.1	+	30	5270	c.5048G>C	c.(5047-5049)tGa>tCa	p.*1683S	ADAMTSL3_ENST00000286744.5_3'UTR			P82987	ATL3_HUMAN	ADAMTS-like 3	0	PLAC.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGGGGTCATGATGCTGCTGT	0.368000													12	58					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551674	248551674	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:248551674C>A	ENST00000355728.2	+	1	765	c.765C>A	c.(763-765)gcC>gcA	p.A255A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGGGCTGCCTTGTATACGT	0.473000													16	73					1.37285e-15	1.47312e-15	1	1	0
HERC5	51191	broad.mit.edu	37	4	89390350	89390350	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:89390350G>A	ENST00000264350.3	+	9	1330	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	HERC5_ENST00000508159.1_Missense_Mutation_p.E31K	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	393					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TACTCTGAATGAAGGGACTGT	0.398000													20	44					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511118	195511118	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:195511118G>A	ENST00000463781.3	-	2	7792	c.7333C>T	c.(7333-7335)Cat>Tat	p.H2445Y	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H2445Y	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	203					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGCATGACCTGTGGAT	0.587000													3	8					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54721249	54721249	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:54721249G>C	ENST00000391750.1	-	13	1824	c.1688C>G	c.(1687-1689)tCt>tGt	p.S563C	LILRB3_ENST00000407860.2_Missense_Mutation_p.S580C|LILRB3_ENST00000245620.9_Missense_Mutation_p.S564C|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Missense_Mutation_p.S564C|LILRB3_ENST00000424807.1_Missense_Mutation_p.S563C|LILRA6_ENST00000440558.2_Missense_Mutation_p.S563C|LILRB3_ENST00000346401.6_Missense_Mutation_p.S575C|LILRA6_ENST00000419410.2_Missense_Mutation_p.S564C|LILRB3_ENST00000469273.1_5'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	563					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	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)		GAATTCCCCAGACAGTGAGGA	0.597000													29	51					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112481443	112481443	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:112481443C>G	ENST00000261745.4	-	18	2484	c.2236G>C	c.(2236-2238)Gag>Cag	p.E746Q		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	746						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATATCCTTCTCAATAAATCGC	0.418000													30	89					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120292533	120292533	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:120292533G>A	ENST00000397843.2	+	6	486	c.320G>A	c.(319-321)gGa>gAa	p.G107E	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.G4E|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.G88E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	107	PDZ.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATGCGGGCTGGAGTACAGACA	0.353000			T	MLL	AML								27	106					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29940456	29940456	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:29940456G>A	ENST00000389048.3	-	2	1681	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	ALK_ENST00000431873.1_Missense_Mutation_p.R259C	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	259					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TATCGGCTGCGATGAGACAGG	0.393000			"""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				22	103					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155429606	155429606	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:155429606C>T	ENST00000368346.3	-	4	5707	c.5068G>A	c.(5068-5070)Gag>Aag	p.E1690K	ASH1L_ENST00000392403.3_Missense_Mutation_p.E1690K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1690	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAAGTACTCTCAGATGAAGAC	0.413000													8	39					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63173968	63173968	+	Splice_Site	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:63173968G>C	ENST00000279178.3	+	7	1322		c.e7-1		SLC22A9_ENST00000310969.4_Splice_Site	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9						transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AATCATCACAGATTTGCAAAC	0.398000													29	81					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203690505	203690505	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:203690505C>G	ENST00000357681.5	+	17	3902	c.2779C>G	c.(2779-2781)Cag>Gag	p.Q927E	ATP2B4_ENST00000367218.3_Missense_Mutation_p.Q927E|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Q915E|ATP2B4_ENST00000341360.2_Missense_Mutation_p.Q927E|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Q927E	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	927					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCATTCTATCAGCTCATTGT	0.537000													22	91					0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359950	66359950	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:66359950G>C	ENST00000333861.3	-	1	604	c.537C>G	c.(535-537)ttC>ttG	p.F179L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	179										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGGGCCTGGAAGTCGGCAA	0.647000													23	44					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34273302	34273302	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:34273302C>T	ENST00000257209.4	+	14	1749	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	FHOD3_ENST00000359247.4_Silent_p.L526L|FHOD3_ENST00000445677.1_Silent_p.L505L|FHOD3_ENST00000590592.1_Silent_p.L718L|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000587493.1_3'UTR	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	526					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCTGGCTCCTCTGAGCCATAG	0.637000													5	37					0	0	1	0	0
C21orf62	56245	broad.mit.edu	37	21	34166715	34166715	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr21:34166715C>T	ENST00000536776.1	-	2	158	c.18G>A	c.(16-18)agG>agA	p.R6R	C21orf62_ENST00000487113.1_Silent_p.R6R|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000490358.1_Silent_p.R6R|C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000479548.1_Silent_p.R6R	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	6										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GAAGACAGTGCCTGGAAGGTG	0.498000													7	39					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2945860	2945860	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:2945860C>G	ENST00000416614.2	-	13	1896	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	NOP14-AS1_ENST00000505731.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.E611Q|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.E611Q|NOP14-AS1_ENST00000507702.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.E611Q|NOP14-AS1_ENST00000515194.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	611					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TTAATAAGCTCAGGTATAAAC	0.463000													12	47					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83592635	83592635	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:83592635C>T	ENST00000265362.4	-	16	2060	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E	SEMA3A_ENST00000436949.1_Silent_p.E582E	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGATGATTCTCTCTTCAGGGC	0.408000													25	75					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564192	140564192	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:140564192C>G	ENST00000361016.2	+	1	3213	c.2058C>G	c.(2056-2058)ctC>ctG	p.L686L		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		686					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)			CCAACTCGCTCACTGTCTACC	0.697000													75	62					0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1836638	1836638	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:1836638C>T	ENST00000302787.2	-	5	1106	c.810G>A	c.(808-810)gaG>gaA	p.E270E		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	270	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCAAGGCCATCTCCTCGATGG	0.567000													20	96					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587020	204587020	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:204587020C>T	ENST00000367175.1	-	1	4313	c.2101G>A	c.(2101-2103)Gaa>Aaa	p.E701K	LRRN2_ENST00000367176.3_Missense_Mutation_p.E701K|LRRN2_ENST00000367177.3_Missense_Mutation_p.E701K			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	701					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTCTCCCCTTCTGAGGATCTG	0.532000													41	178					0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24710487	24710487	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:24710487G>A	ENST00000399423.4	-	4	760	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	TINF2_ENST00000559019.1_Intron|TINF2_ENST00000267415.7_Silent_p.L144L|TINF2_ENST00000538777.1_Intron|TINF2_ENST00000558566.1_Intron|TINF2_ENST00000540705.1_Silent_p.L109L	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	144					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		ATGGCAGCCAGAAAGGGTTCC	0.527000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				81	156					0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37425360	37425360	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:37425360C>T	ENST00000397225.2	+	3	1614	c.699C>T	c.(697-699)ttC>ttT	p.F233F	MPST_ENST00000397129.1_Silent_p.F253F|MPST_ENST00000404393.1_3'UTR|MPST_ENST00000341116.3_Silent_p.F233F|MPST_ENST00000401419.3_Silent_p.F233F|MPST_ENST00000429360.2_Silent_p.F233F|MPST_ENST00000404802.3_Silent_p.F233F			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	233	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						GCCATCTGTTCCAGGAGAAGA	0.607000													22	72					0	0	1	0	0
RBM11	54033	broad.mit.edu	37	21	15599567	15599567	+	Missense_Mutation	SNP	G	G	A	rs61733445		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr21:15599567G>A	ENST00000400577.3	+	5	808	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	267							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CAGAGGCAACGAATGTAGCCA	0.358000													49	110					0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170863537	170863537	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:170863537G>A	ENST00000272793.5	+	28	4117	c.4067G>A	c.(4066-4068)gGa>gAa	p.G1356E	UBR3_ENST00000392631.1_Missense_Mutation_p.G177E|UBR3_ENST00000418381.1_Missense_Mutation_p.G1356E			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1356					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GTGGACAAAGGAGAATTCACG	0.408000													4	58					0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25717357	25717357	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:25717357C>A	ENST00000349320.3	-	7	1024	c.636G>T	c.(634-636)ctG>ctT	p.L212L	RHCE_ENST00000413854.1_Silent_p.L228L|RHCE_ENST00000294413.7_Silent_p.L228L|RHCE_ENST00000243186.6_Silent_p.L228L|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000425135.1_Silent_p.L228L|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000374352.2_Silent_p.L212L|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000349438.4_Silent_p.L228L			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	228						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGACTTCTCAGCAGAGCAG	0.547000													107	153					1.22908e-42	1.34916e-42	1	1	0
C7orf50	84310	broad.mit.edu	37	7	1049692	1049692	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:1049692C>G	ENST00000397098.3	-	3	1143	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q	C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.E73Q|C7orf50_ENST00000397100.2_Missense_Mutation_p.E73Q			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	73							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		TTCTTCCGTTCCTTTTTCAGC	0.652000													13	24					0	0	1	0	0
COQ10B	80219	broad.mit.edu	37	2	198324696	198324696	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:198324696C>G	ENST00000263960.2	+	2	283	c.145C>G	c.(145-147)Cca>Gca	p.P49A	COQ10B_ENST00000409010.1_Missense_Mutation_p.P21A|COQ10B_ENST00000545340.1_Missense_Mutation_p.P6A|COQ10B_ENST00000488445.1_3'UTR|COQ10B_ENST00000409398.1_Intron	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	49						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGAACTCTTCCACTACATAC	0.343000													14	71					0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12172749	12172749	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:12172749C>T	ENST00000566228.1	+	11	1448	c.1379C>T	c.(1378-1380)tCa>tTa	p.S460L	SNX29_ENST00000306030.3_Missense_Mutation_p.S75L|SNX29_ENST00000323433.4_Missense_Mutation_p.S75L	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	75					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CCTTCTGCCTCAGTGCCAGAG	0.562000													7	16					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229506	7229506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:7229506C>T	ENST00000379938.2	+	10	1711	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q392*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q392*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q392*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	392					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAGGCAATTCAGCTCCAGAC	0.622000													12	44					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13208741	13208741	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:13208741G>A	ENST00000197268.8	+	2	414	c.294G>A	c.(292-294)ctG>ctA	p.L98L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	98						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CCTCCTCCCTGGTGTCATATG	0.582000													27	149					0	0	1	0	0
ID1	3397	broad.mit.edu	37	20	30193193	30193193	+	Translation_Start_Site	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:30193193G>T	ENST00000376105.3	+	1	102	c.3G>T	c.(1-3)atG>atT	p.M1I	ID1_ENST00000376112.3_Start_Codon_SNP_p.M1I	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	1					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CAAGAATCATGAAAGTCGCCA	0.602000													22	63					1.64293e-13	1.74917e-13	1	1	0
ARHGAP26	23092	broad.mit.edu	37	5	142500655	142500655	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:142500655C>A	ENST00000378004.3	+	18	1996	c.1641C>A	c.(1639-1641)atC>atA	p.I547I	ARHGAP26_ENST00000274498.4_Silent_p.I547I	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	547	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGCAGCCATCATGGACATCA	0.433000													50	113					3.86236e-30	4.22999e-30	1	1	0
FBXO21	23014	broad.mit.edu	37	12	117604822	117604822	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:117604822C>T	ENST00000427718.2	-	8	1148	c.1074G>A	c.(1072-1074)ctG>ctA	p.L358L	FBXO21_ENST00000330622.5_Silent_p.L358L	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN	F-box protein 21	358					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CTTTCACTGTCAGCTGCTTGC	0.478000													27	95					0	0	1	0	0
NDUFS7	374291	broad.mit.edu	37	19	1388560	1388560	+	Silent	SNP	C	C	T	rs138034508	by1000genomes	TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:1388560C>T	ENST00000313408.7	+	3	113	c.90C>T	c.(88-90)gtC>gtT	p.V30V	NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000546283.1_Silent_p.V30V|NDUFS7_ENST00000539480.1_Silent_p.V30V|NDUFS7_ENST00000414651.2_Silent_p.V30V|NDUFS7_ENST00000233627.9_Silent_p.V30V			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	30					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	CACGAGGTGTCCATCAGAGCG	0.677000													15	48					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93659279	93659279	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:93659279G>A	ENST00000343253.7	+	6	1178	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	CCDC18_ENST00000338949.4_Missense_Mutation_p.E25K|CCDC18_ENST00000401026.3_Missense_Mutation_p.E226K|CCDC18_ENST00000557479.1_Missense_Mutation_p.E344K|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	226										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGACTTACTTGAACAAACCAA	0.303000													18	53					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545682	196545682	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:196545682C>A	ENST00000409086.3	+	2	1191	c.916C>A	c.(916-918)Cga>Aga	p.R306R	SLC39A10_ENST00000359634.5_Silent_p.R306R|SLC39A10_ENST00000541054.1_5'UTR	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	306					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.R306*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AGGTGAACTTCGACATACTAG	0.368000													4	87					0.150653	0.151287	1	1	0
CHRNA2	1135	broad.mit.edu	37	8	27321150	27321150	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:27321150G>C	ENST00000407991.1	-	6	1418	c.810C>G	c.(808-810)atC>atG	p.I270M	CHRNA2_ENST00000240132.2_Missense_Mutation_p.I255M|CHRNA2_ENST00000520933.2_Missense_Mutation_p.I270M	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	270						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TGATGAGGTTGATGGTGTAGA	0.602000													37	53					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84900629	84900629	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:84900629C>G	ENST00000262424.5	+	7	1060	c.836C>G	c.(835-837)tCt>tGt	p.S279C	CRISPLD2_ENST00000567845.1_Missense_Mutation_p.S278C|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.S279C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	279						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						AAGAAAACCTCTGCGGTCAAC	0.592000													19	48					0	0	1	0	0
SMCO1	255798	broad.mit.edu	37	3	196235078	196235078	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:196235078G>A	ENST00000397537.2	-	3	481	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F		NM_001077657.1	NP_001071125.1			single-pass membrane protein with coiled-coil domains 1																		TTTCTTCTGAGTACAGAGGCT	0.463000													51	130					0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159840543	159840543	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:159840543C>G	ENST00000297151.4	-	5	877	c.490G>C	c.(490-492)Gat>Cat	p.D164H		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	164					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTTCCCATCATAGTCAAAC	0.418000													32	95					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24006693	24006693	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:24006693C>G	ENST00000328046.8	-	4	1415	c.1160G>C	c.(1159-1161)aGa>aCa	p.R387T		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	387										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ATCTCTGGTTCTGCCTGCTAC	0.433000													70	50					0	0	1	0	0
USE1	55850	broad.mit.edu	37	19	17327045	17327045	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:17327045G>A	ENST00000595101.1	+	4	317	c.299G>A	c.(298-300)aGa>aAa	p.R100K	USE1_ENST00000263897.5_Missense_Mutation_p.R100K|USE1_ENST00000445667.2_Missense_Mutation_p.R100K|USE1_ENST00000379776.4_Missense_Mutation_p.R100K|USE1_ENST00000596136.1_Missense_Mutation_p.R100K			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	100					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						ACCACAGCCAGAGAGCGAGTG	0.612000													31	73					0	0	1	0	0
SIVA1	10572	broad.mit.edu	37	14	105219632	105219632	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:105219632G>A	ENST00000329967.6	+	1	196	c.94G>A	c.(94-96)Gag>Aag	p.E32K	SIVA1_ENST00000347067.5_Missense_Mutation_p.E32K	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	32					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		CGTGTGCGCCGAGCGCTACTC	0.731000													15	21					0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7963176	7963176	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:7963176C>G	ENST00000246024.2	-	8	987	c.772G>C	c.(772-774)Gac>Cac	p.D258H		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	258	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						acaaggctgtctttgttttct	0.463000													19	38					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35300318	35300318	+	Missense_Mutation	SNP	G	G	A	rs150197430		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:35300318G>A	ENST00000254457.5	+	5	2522	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	371					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CATGTCGGCCGAGGTCTTCGG	0.706000													20	36					0	0	1	0	0
CDK5R1	8851	broad.mit.edu	37	17	30814827	30814827	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:30814827G>A	ENST00000313401.3	+	2	878	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	63					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CCAAGAAGAAGAACTCCAAGA	0.537000													28	173					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884262	38884262	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr21:38884262C>G	ENST00000339659.4	+	11	3163	c.1693C>G	c.(1693-1695)Cct>Gct	p.P565A	DYRK1A_ENST00000455387.2_Missense_Mutation_p.P346A|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.P574A	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A						nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CACTGAAGCTCCTACACAGGT	0.438000													39	68					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10299762	10299762	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:10299762G>C	ENST00000403437.2	-	33	4632	c.4538C>G	c.(4537-4539)tCt>tGt	p.S1513C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1513					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGTGAGGTCAGAAATCTCCTC	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	22					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964916	123964916	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:123964916C>T	ENST00000314393.4	+	3	2001	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	389	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			ACAACCGTCTCTTGCTCCCCC	0.622000													34	91					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7121592	7121592	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:7121592C>A	ENST00000399510.2	-	3	979	c.127G>T	c.(127-129)Gac>Tac	p.D43Y	ACADVL_ENST00000543245.2_Intron	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	237					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TCATAATAGTCCAGGATGTCT	0.597000													10	10					0.00829132	0.00836136	1	1	0
ITGB6	3694	broad.mit.edu	37	2	160994710	160994710	+	Splice_Site	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:160994710C>T	ENST00000283249.2	-	9	1345	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	ITGB6_ENST00000409872.1_Splice_Site_p.E370K|ITGB6_ENST00000409967.2_Splice_Site_p.E370K|ITGB6_ENST00000428609.2_Splice_Site_p.E328K	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	370	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GACCGCAGTTCCTTTAGTTAC	0.398000													27	114					0	0	1	0	0
SNX4	8723	broad.mit.edu	37	3	125238896	125238896	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:125238896C>G	ENST00000251775.4	-	1	145	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_5'UTR	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	41					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CCAGAGCTCTCTTCTCCGGCC	0.746000													5	19					0	0	1	0	0
C9orf40	55071	broad.mit.edu	37	9	77567328	77567328	+	Nonsense_Mutation	SNP	G	G	T	rs145798184		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:77567328G>T	ENST00000376854.5	-	1	474	c.200C>A	c.(199-201)tCg>tAg	p.S67*		NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN	chromosome 9 open reading frame 40	67										lung(2)|stomach(1)	3						GGGCGAAGCCGAGGGCTCTGC	0.711000													6	15					0.0215528	0.021689	1	1	0
MAP3K19	80122	broad.mit.edu	37	2	135756417	135756417	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:135756417C>T	ENST00000375845.3	-	5	495	c.465G>A	c.(463-465)gtG>gtA	p.V155V	MAP3K19_ENST00000392918.3_Silent_p.V155V|MAP3K19_ENST00000375844.3_Silent_p.V155V|MAP3K19_ENST00000392915.1_Silent_p.V172V|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392917.3_Silent_p.V155V	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		AGCCCAAGTTCACATTGCAGA	0.428000													26	46					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722252	58722252	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:58722252G>T	ENST00000300079.5	+	5	339	c.289G>T	c.(289-291)Gat>Tat	p.D97Y	GLYATL1_ENST00000317391.4_Missense_Mutation_p.D66Y|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	66						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGAGATGACTGATGACATGGA	0.348000													26	84					1.38854e-25	1.51549e-25	1	1	0
ASF1A	25842	broad.mit.edu	37	6	119221997	119221997	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:119221997C>G	ENST00000229595.5	+	2	370	c.176C>G	c.(175-177)tCt>tGt	p.S59C	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	59	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		GTTTTAGACTCTGTTTTAGTG	0.358000													77	136					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86090487	86090487	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:86090487G>C	ENST00000377332.3	-	2	312	c.204C>G	c.(202-204)ctC>ctG	p.L68L	ST3GAL5_ENST00000393805.1_Silent_p.L40L|ST3GAL5_ENST00000393808.3_Silent_p.L45L|ST3GAL5_ENST00000525834.2_Silent_p.L68L|ST3GAL5_ENST00000484728.1_5'UTR	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	68					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GTACTTACTTGAGGATGTCTT	0.478000													55	123					0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77595839	77595839	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:77595839G>C	ENST00000355619.5	-	2	481	c.157C>G	c.(157-159)Ctt>Gtt	p.L53V		NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	53	F-box.				regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		CGGTCAAGAAGAGGCAAATAT	0.418000													47	96					0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61081359	61081359	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:61081359G>C	ENST00000301764.7	-	15	2233	c.1836C>G	c.(1834-1836)ttC>ttG	p.F612L	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	612	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCCAAAGTAGAAAAGCGCTC	0.448000								Nucleotide excision repair (NER)					29	58					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772474	4772474	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:4772474G>A	ENST00000378191.4	+	2	925	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	AJAP1_ENST00000378190.3_Missense_Mutation_p.A182T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	182	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TGAGTTCATCGCCTGGGGGCC	0.652000													12	16					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101342892	101342892	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:101342892G>A	ENST00000344327.3	-	8	2605	c.2181C>T	c.(2179-2181)atC>atT	p.I727I	TRPC6_ENST00000348423.4_Silent_p.I611I|TRPC6_ENST00000360497.4_Silent_p.I672I|TRPC6_ENST00000532133.1_Silent_p.I649I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	727					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)		ATGAACTGTTGATCATGGCAA	0.323000													36	101					0	0	1	0	0
FABP6	2172	broad.mit.edu	37	5	159626144	159626144	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:159626144G>A	ENST00000393980.4	+	2	177	c.31G>A	c.(31-33)Gag>Aag	p.E11K	CTB-127C13.1_ENST00000501818.1_RNA|FABP6_ENST00000393982.1_Missense_Mutation_p.E11K	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	0					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGGTGGAGATGCAGGC	0.557000											OREG0016998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	38	77					0	0	1	0	0
TMEM170A	124491	broad.mit.edu	37	16	75485607	75485607	+	Silent	SNP	C	C	T	rs139740117		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:75485607C>T	ENST00000569540.1	-	2	315	c.150G>A	c.(148-150)ttG>ttA	p.L50L	TMEM170A_ENST00000561878.1_Silent_p.L88L|TMEM170A_ENST00000567796.1_Silent_p.L43L|RP11-77K12.1_ENST00000567194.1_Intron|RP11-77K12.1_ENST00000561887.1_Intron|TMEM170A_ENST00000566980.1_Intron|TMEM170A_ENST00000569276.1_Silent_p.L88L|TMEM170A_ENST00000357613.4_Intron			Q8WVE7	T170A_HUMAN	transmembrane protein 170A	88						integral to membrane				endometrium(1)	1						CGATGCCCATCAACAGGATGC	0.413000													23	72					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228471339	228471339	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:228471339C>T	ENST00000570156.2	+	38	10234	c.10160C>T	c.(10159-10161)tCa>tTa	p.S3387L	OBSCN_ENST00000359599.6_Missense_Mutation_p.S1805L|OBSCN_ENST00000422127.1_Missense_Mutation_p.S2958L|OBSCN_ENST00000366707.4_Missense_Mutation_p.S77L|OBSCN_ENST00000366709.4_Missense_Mutation_p.S77L|OBSCN_ENST00000284548.11_Missense_Mutation_p.S2958L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2422	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTACGGGCCTCAGGGAAGCAC	0.647000													13	41					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55329821	55329821	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:55329821G>C	ENST00000391728.4	+	3	155	c.122G>C	c.(121-123)cGa>cCa	p.R41P	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.R41P|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.R41P|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.R41P|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.R41P	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.R41Q(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGGTGCCTCGAGGAGGACAC	0.542000													33	74					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237301	140237301	+	Silent	SNP	C	C	T	rs139533789	by1000genomes	TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:140237301C>T	ENST00000307360.5	+	1	1668	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2	NP_061724.1												p.D556D(1)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687000													37	116					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68535253	68535253	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:68535253C>T	ENST00000433211.2	-	8	1251	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L	CTNNA3_ENST00000373744.4_Silent_p.L359L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AAGCAATATTCAGGGTATTAC	0.368000													24	158					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39965243	39965243	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:39965243C>T	ENST00000599117.1	+	29	3276	c.2909C>T	c.(2908-2910)tCa>tTa	p.S970L	SUPT5H_ENST00000402194.2_Missense_Mutation_p.S966L|SUPT5H_ENST00000359191.6_Missense_Mutation_p.S966L|SUPT5H_ENST00000432763.2_Missense_Mutation_p.S970L|SUPT5H_ENST00000598725.1_Missense_Mutation_p.S970L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	970					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACGCCAGGCTCAGGCATCGAG	0.612000											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	71					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152190991	152190991	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:152190991G>A	ENST00000368801.2	-	3	3189	c.3114C>T	c.(3112-3114)ggC>ggT	p.G1038G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1038					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)			ACTCATATGGGCCACGGCTTG	0.587000													118	226					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54159158	54159158	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:54159158G>A	ENST00000404125.1	-	10	1185	c.1130C>T	c.(1129-1131)tCt>tTt	p.S377F	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	377					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGTTAACCAAGAGGGCTTCTT	0.418000													12	76					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509836	117509836	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:117509836C>G	ENST00000393203.2	+	6	2090	c.1943C>G	c.(1942-1944)tCa>tGa	p.S648*	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	648	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACTCAGGTCTCAGACGCAGGG	0.527000													39	119					0	0	1	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162315	142162315	+	RNA	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:142162315C>G	ENST00000390371.3	-	0	92																											CAGGACCCACCTGCCCACAGG	0.572000													21	70					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41938431	41938431	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:41938431C>T	ENST00000301831.4	-	15	1875	c.1413G>A	c.(1411-1413)caG>caA	p.Q471Q	ULK4_ENST00000420927.1_Silent_p.Q471Q	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	471							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TGGAGTCGATCTGCGAGCACA	0.463000													47	129					0	0	1	0	0
CHAD	1101	broad.mit.edu	37	17	48543113	48543113	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:48543113G>A	ENST00000508540.1	-	2	1045	c.893C>T	c.(892-894)aCc>aTc	p.T298I	ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.T298I|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	298					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGGGTTATTGGTAAGGGCGAG	0.567000													78	228					0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227922981	227922981	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:227922981C>G	ENST00000366758.3	-	1	131	c.132G>C	c.(130-132)ctG>ctC	p.L44L	SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Silent_p.L44L|SNAP47_ENST00000315781.5_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	44										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CCATCCAGCTCAGCACGGGTC	0.716000													4	19					0	0	1	0	0
FHL2	2274	broad.mit.edu	37	2	106015366	106015366	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:106015366G>A	ENST00000344213.4	-	1	315	c.188C>T	c.(187-189)tCg>tTg	p.S63L	FHL2_ENST00000409177.1_Intron|FHL2_ENST00000408995.1_Intron|FHL2_ENST00000393352.3_Intron|FHL2_ENST00000322142.8_Intron|FHL2_ENST00000358129.4_5'UTR|FHL2_ENST00000393353.3_5'UTR|FHL2_ENST00000607522.1_Intron|FHL2_ENST00000336660.5_Intron			Q14192	FHL2_HUMAN	four and a half LIM domains 2	0	LIM zinc-binding 1.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						CCCCACTTCCGAGCCCTGGTG	0.711000													14	20					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216863	21216863	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:21216863G>C	ENST00000380216.1	-	1	447	c.442C>G	c.(442-444)Caa>Gaa	p.Q148E		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	148					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GTGATTCTTTGAAAGTATTTC	0.458000													109	209					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106117133	106117133	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:106117133G>C	ENST00000357242.5	+	21	3475	c.3301G>C	c.(3301-3303)Gat>Cat	p.D1101H	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D1095H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1101						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAAACCCATAGATGTAAAAGC	0.393000													27	46					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35714609	35714609	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:35714609G>A	ENST00000314888.9	-	23	3300	c.2947C>T	c.(2947-2949)Cag>Tag	p.Q983*	TLN1_ENST00000540444.1_Nonsense_Mutation_p.Q983*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	983					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGCAAGCTGAGCGCTGGGG	0.587000													29	29					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43227297	43227297	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:43227297G>A	ENST00000259750.4	+	12	1360	c.1277G>A	c.(1276-1278)cGa>cAa	p.R426Q	TTBK1_ENST00000304139.5_Missense_Mutation_p.R375Q	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	426						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAACAGAGCCGAGGCATGGGG	0.667000													5	36					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349748	100349748	+	RNA	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:100349748G>C	ENST00000542585.1	+	0	2168				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTCCATGGAAGAGCCTGTCAT	0.532000													64	89					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197593988	197593988	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:197593988G>T	ENST00000389175.4	+	23	2763	c.2628G>T	c.(2626-2628)caG>caT	p.Q876H	CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.Q523H|CCDC150_ENST00000409270.1_Missense_Mutation_p.Q363H	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	876										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCTGCGACAGAAACTTGCAG	0.403000													13	69					4.36969e-10	4.57071e-10	1	1	0
ARFGEF2	10564	broad.mit.edu	37	20	47558438	47558438	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:47558438G>C	ENST00000371917.4	+	3	190	c.190G>C	c.(190-192)Gaa>Caa	p.E64Q		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	64					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAACTTCATTGAAGCTGACAA	0.463000													76	219					0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531412	190531412	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:190531412C>G	ENST00000260952.4	+	4	967	c.554C>G	c.(553-555)tCt>tGt	p.S185C	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	185					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GATCTTAAGTCTACTGTCATT	0.368000													14	107					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16824788	16824788	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:16824788C>G	ENST00000355661.3	-	14	2072	c.2062G>C	c.(2062-2064)Gag>Cag	p.E688Q	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E688Q|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E688Q			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	688	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTGTCGCTCTCAGCGATCTTC	0.547000													32	74					0	0	1	0	0
FTH1P10	2502	broad.mit.edu	37	5	17353990	17353990	+	RNA	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:17353990C>T	ENST00000401830.3	-	0	743					NR_002201.1																						GCTTAGCTTTCATTATCACTG	0.498000													9	51					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34004020	34004020	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr21:34004020G>C	ENST00000382491.3	-	28	3990	c.3866C>G	c.(3865-3867)tCa>tGa	p.S1289*	SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.S1336*|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.S1375*	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1336	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTGAGCCTTTGATACAGCAAG	0.408000													8	58					0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43379267	43379267	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:43379267C>T	ENST00000372861.3	+	2	912	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	261			P -> H (in TASK-5A; dbSNP:rs13037900).			integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TGCCCGCACCCCCAgcccgcg	0.756000													19	41					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	64					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70748838	70748838	+	Missense_Mutation	SNP	G	G	A	rs121434515		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:70748838G>A	ENST00000361983.4	+	1	352	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	84					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GGTGGAGCCCGAGGGGCCCGT	0.731000													28	53					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101384254	101384254	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:101384254C>T	ENST00000312938.4	-	4	1757	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGGCAGATTCAGCCTCTGAA	0.438000													32	84					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146807024	146807024	+	Missense_Mutation	SNP	G	G	A	rs147914934		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:146807024G>A	ENST00000508784.1	-	4	1780	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L	ZNF827_ENST00000513320.1_Missense_Mutation_p.S168L|ZNF827_ENST00000379448.4_Missense_Mutation_p.S518L			Q17R98	ZN827_HUMAN	zinc finger protein 827	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S518L(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CAGCAAAGGCGAGACGCCAGC	0.582000													16	98					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23910518	23910518	+	Silent	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:23910518G>T	ENST00000382298.3	-	10	8085	c.7497C>A	c.(7495-7497)gtC>gtA	p.V2499V	SACS_ENST00000402364.1_Silent_p.V1749V|SACS_ENST00000382292.3_Silent_p.V2499V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2499					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)		GTCGCTTTGGGACTGCTCCTA	0.393000													42	136					1.76056e-25	1.91933e-25	1	1	0
CUL2	8453	broad.mit.edu	37	10	35320464	35320464	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:35320464G>A	ENST00000374748.1	-	14	1567	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	CUL2_ENST00000537177.1_Silent_p.F437F|CUL2_ENST00000374751.3_Silent_p.F418F|CUL2_ENST00000374749.3_Silent_p.F418F|CUL2_ENST00000602371.1_Silent_p.F361F|CUL2_ENST00000374746.1_Silent_p.F418F|CUL2_ENST00000374742.1_Silent_p.F418F			Q13617	CUL2_HUMAN	cullin 2	418					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ACACTGTGATGAAGCTCGTGA	0.373000													14	92					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47592659	47592659	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:47592659G>A	ENST00000371917.4	+	14	1881	c.1881G>A	c.(1879-1881)caG>caA	p.Q627Q		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	627					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CGGGGACCCAGACAACTGTTC	0.517000													15	47					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47301006	47301006	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:47301006G>T	ENST00000319190.5	+	20	2889	c.2521G>T	c.(2521-2523)Gag>Tag	p.E841*	C2orf61_ENST00000464527.2_Intron|RP11-761B3.1_ENST00000422269.1_Intron|TTC7A_ENST00000263737.6_Nonsense_Mutation_p.E487*|TTC7A_ENST00000409245.1_Nonsense_Mutation_p.E807*|TTC7A_ENST00000394850.2_Nonsense_Mutation_p.E865*	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	841							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CACCGCCCTTGAGCTGGAGGC	0.682000													26	29					3.28513e-13	3.48976e-13	1	1	0
HES1	3280	broad.mit.edu	37	3	193855956	193855956	+	Missense_Mutation	SNP	C	C	A	rs141702996	byFrequency	TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:193855956C>A	ENST00000232424.3	+	4	1013	c.777C>A	c.(775-777)aaC>aaA	p.N259K		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	259	Ser/Thr-rich.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TGGGCCCCAACGCAGTGTCAC	0.662000													16	43					8.28177e-16	8.89662e-16	1	1	0
OSBPL8	114882	broad.mit.edu	37	12	76763484	76763484	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:76763484C>A	ENST00000261183.3	-	20	2652	c.2173G>T	c.(2173-2175)Gaa>Taa	p.E725*	OSBPL8_ENST00000393249.2_Nonsense_Mutation_p.E683*|OSBPL8_ENST00000393250.4_Nonsense_Mutation_p.E683*	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	725					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GACCACTCTTCATTTTTTGTT	0.373000													18	68					6.49762e-13	6.86419e-13	1	1	0
SFI1	9814	broad.mit.edu	37	22	32010807	32010807	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:32010807G>A	ENST00000432498.1	+	27	3329	c.2936G>A	c.(2935-2937)cGa>cAa	p.R979Q	SFI1_ENST00000443326.1_Missense_Mutation_p.R928Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R857Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R928Q|SFI1_ENST00000540643.1_Missense_Mutation_p.R955Q|SFI1_ENST00000414585.1_Missense_Mutation_p.R857Q|SFI1_ENST00000400288.2_Missense_Mutation_p.R1010Q|SFI1_ENST00000474741.1_3'UTR	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1010					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AAGCAGCCGCGACGCCCACAC	0.652000													22	60					0	0	1	0	0
HACL1	26061	broad.mit.edu	37	3	15626761	15626761	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:15626761G>C	ENST00000321169.5	-	7	915	c.548C>G	c.(547-549)tCt>tGt	p.S183C	HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.S157C|HACL1_ENST00000451445.2_Intron|HACL1_ENST00000456194.2_Missense_Mutation_p.S156C	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	183					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TCACTTTATAGAATTCACATT	0.363000													38	116					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66467437	66467437	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:66467437C>T	ENST00000273854.3	-	3	1432	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	EPHA5_ENST00000354839.4_Missense_Mutation_p.A278T|EPHA5_ENST00000432638.2_Missense_Mutation_p.A278T|EPHA5_ENST00000511294.1_Missense_Mutation_p.A278T	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	278	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCCCCTTCGGCGCTGCAGTGC	0.517000										TSP Lung(17;0.13)			30	56					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61213517	61213517	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:61213517G>C	ENST00000301761.2	+	4	549	c.475G>C	c.(475-477)Gag>Cag	p.E159Q	SDHAF2_ENST00000542074.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|SDHAF2_ENST00000543265.1_3'UTR|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.E147Q|SDHAF2_ENST00000537782.1_3'UTR	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	159					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						CCCAGATCTTGAGTACCTCTT	0.473000											OREG0021000	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	43	107					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88272535	88272535	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:88272535C>G	ENST00000357081.3	-	10	868	c.724G>C	c.(724-726)Gac>Cac	p.D242H	AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.D80H|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.D294H|AGTPBP1_ENST00000376081.4_Intron|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.D242H|AGTPBP1_ENST00000376080.1_Missense_Mutation_p.R171T|AGTPBP1_ENST00000337006.4_Missense_Mutation_p.R171T			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	242					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TATCCTCTGTCTACAGCTCTC	0.343000													14	22					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578146	14578146	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:14578146G>C	ENST00000544627.1	+	2	1641	c.1321G>C	c.(1321-1323)Gat>Cat	p.D441H	ATF7IP_ENST00000261168.4_Missense_Mutation_p.D433H|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D433H|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D433H|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D433H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	433	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TATGGAGACAGATGAAATCAT	0.338000													13	50					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152060593	152060593	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:152060593G>C	ENST00000368806.1	-	2	91	c.27C>G	c.(25-27)ctC>ctG	p.L9L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	9							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CAATTACACAGAGGACATTTC	0.483000													18	113					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21822598	21822598	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:21822598C>T	ENST00000216297.2	-	23	3100	c.2762G>A	c.(2761-2763)gGc>gAc	p.G921D		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	921					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GAAAGACCAGCCACCTTGTTC	0.488000													17	71					0	0	1	0	0
PRKRA	8575	broad.mit.edu	37	2	179300974	179300974	+	Missense_Mutation	SNP	A	A	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:179300974A>C	ENST00000325748.4	-	7	882	c.682T>G	c.(682-684)Tta>Gta	p.L228V	PRKRA_ENST00000438687.3_Missense_Mutation_p.L115V|PRKRA_ENST00000432031.2_Missense_Mutation_p.L217V|PRKRA_ENST00000487082.1_Missense_Mutation_p.L203V|AC009948.5_ENST00000453026.2_RNA	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	228	Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			CTTTTCAGTAAGTTGATCTTT	0.348000													5	226					0	0	1	0	0
DXO	1797	broad.mit.edu	37	6	31939432	31939432	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:31939432C>T	ENST00000375349.3	-	2	432	c.21G>A	c.(19-21)aaG>aaA	p.K7K	DXO_ENST00000375356.3_Silent_p.K7K|DXO_ENST00000337523.5_Silent_p.K7K|DXO_ENST00000478221.1_Intron					decapping exoribonuclease	7																	CAGCTCCTCTCTTGGTCCCCC	0.552000													31	59					0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90122397	90122397	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:90122397C>T	ENST00000371947.3	-	5	1951	c.612G>A	c.(610-612)acG>acA	p.T204T	RNLS_ENST00000331772.4_Silent_p.T204T|RNLS_ENST00000437752.1_Silent_p.T121T|RNLS_ENST00000466945.1_5'UTR	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	204						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						CATCAATCTTCGTACCAGCTT	0.468000													35	73					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5112508	5112508	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:5112508C>G	ENST00000315997.5	-	2	477	c.276G>C	c.(274-276)gtG>gtC	p.V92V	C16orf89_ENST00000472572.3_Silent_p.V92V|C16orf89_ENST00000350219.4_Silent_p.V130V|C16orf89_ENST00000474471.3_Silent_p.V92V|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Silent_p.V130V	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	92						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCAGCATCCCCACGCGCAGGC	0.577000													49	118					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828652	59828652	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:59828652G>C	ENST00000278865.3	+	2	92	c.19G>C	c.(19-21)Gat>Cat	p.D7H	MS4A3_ENST00000358152.2_Missense_Mutation_p.D7H|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000534744.1_Missense_Mutation_p.D7H|MS4A3_ENST00000395032.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	7						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCACGAAGTTGATAATGCAGA	0.488000													36	100					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2732262	2732262	+	Splice_Site	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:2732262G>A	ENST00000320876.6	+	25	3386		c.e25-1		SMCHD1_ENST00000261598.8_Splice_Site|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1						chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCTCTTTCTAGAGTTGTAAAG	0.363000													33	74					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63987775	63987775	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:63987775G>C	ENST00000279227.5	+	11	1395	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q	FERMT3_ENST00000345728.5_Missense_Mutation_p.E430Q	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	434	FERM.|PH.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGGCATGAGTGAGATCTACCT	0.632000													148	312					0	0	1	0	0
CCDC150	284992	broad.mit.edu	37	2	197594004	197594004	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:197594004G>C	ENST00000389175.4	+	23	2779	c.2644G>C	c.(2644-2646)Gaa>Caa	p.E882Q	CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.E529Q|CCDC150_ENST00000409270.1_Missense_Mutation_p.E369Q	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	882										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGCAGAGCTAGAAAAAATACT	0.403000													20	83					0	0	1	0	0
MARCH9	92979	broad.mit.edu	37	12	58149663	58149663	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:58149663G>C	ENST00000266643.5	+	1	783	c.352G>C	c.(352-354)Gag>Cag	p.E118Q		NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	118						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCAGGGCCCGGAGCAGGTCAG	0.751000													3	10					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836109	12836109	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:12836109C>G	ENST00000357726.4	+	2	738	c.711C>G	c.(709-711)ctC>ctG	p.L237L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	237										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AACTTGTTCTCTTCAACATCC	0.522000													41	90					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644455	53644455	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:53644455C>A	ENST00000452676.2	-	5	2055	c.1629G>T	c.(1627-1629)atG>atT	p.M543I	ZNF347_ENST00000334197.7_Missense_Mutation_p.M542I|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.M543I	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACTCATTACACATATAAGGCT	0.398000													77	180					1.39921e-30	1.53415e-30	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128380936	128380936	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:128380936G>A	ENST00000389524.4	+	28	3780	c.3727G>A	c.(3727-3729)Gcc>Acc	p.A1243T	MYO7B_ENST00000409816.2_Missense_Mutation_p.A1243T|MYO7B_ENST00000409090.1_Missense_Mutation_p.A96T|MYO7B_ENST00000428314.1_Missense_Mutation_p.A1243T			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1243	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTCCAGGTCGCCGTGTACGA	0.632000													8	26					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57595639	57595639	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:57595639C>A	ENST00000243077.3	+	67	11011	c.10545C>A	c.(10543-10545)gaC>gaA	p.D3515E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3515	LDL-receptor class A 25.				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)	GGAAGTGTGACGGAGAGGATG	0.632000													41	169					3.43241e-23	3.73344e-23	1	1	0
TM9SF3	56889	broad.mit.edu	37	10	98287030	98287030	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:98287030G>C	ENST00000371142.4	-	14	1858	c.1642C>G	c.(1642-1644)Caa>Gaa	p.Q548E		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	548						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		AATGATGTTTGAAATAAGCCA	0.294000													8	26					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77842012	77842012	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:77842012C>T	ENST00000407578.2	-	8	1587	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E403K|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E403K|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCCAGTGTTTCAGGGCTTATC	0.328000													9	69					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8588832	8588832	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:8588832C>T	ENST00000382487.4	+	3	1251	c.834C>T	c.(832-834)ctC>ctT	p.L278L	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	278					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GGGGCATCCTCAGCAAGTGCC	0.667000													15	54					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62739200	62739200	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:62739200C>T	ENST00000383710.4	-	3	1153	c.804G>A	c.(802-804)ctG>ctA	p.L268L	CADPS_ENST00000490353.2_Silent_p.L268L|CADPS_ENST00000357948.3_Silent_p.L268L|CADPS_ENST00000283269.9_Silent_p.L268L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	268					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCTCCTTGCTCAGAATCAGCT	0.537000													28	74					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94373179	94373179	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:94373179G>A	ENST00000260731.3	+	8	925	c.835G>A	c.(835-837)Gat>Aat	p.D279N		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	279	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGAGCTGTTGATAAGAGAGC	0.378000													14	50					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188433	152188433	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:152188433G>C	ENST00000368801.2	-	3	5747	c.5672C>G	c.(5671-5673)tCa>tGa	p.S1891*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1891					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)			GGAGTGACCTGAGCCAGATCC	0.532000													47	2592					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7967062	7967062	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:7967062G>T	ENST00000543909.1	-	16	2172	c.1413C>A	c.(1411-1413)ttC>ttA	p.F471L	SLC2A14_ENST00000396589.2_Missense_Mutation_p.F471L|SLC2A14_ENST00000542505.1_Missense_Mutation_p.F112L|SLC2A14_ENST00000542546.1_Missense_Mutation_p.F362L|SLC2A14_ENST00000539924.1_Missense_Mutation_p.F486L|SLC2A14_ENST00000340749.5_Missense_Mutation_p.F448L|SLC2A14_ENST00000535295.1_Missense_Mutation_p.F362L|SLC2A14_ENST00000431042.2_Missense_Mutation_p.F448L			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	471					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GGACTTTGAAGAAGGTAAAGG	0.478000													40	92					2.6416e-12	2.78447e-12	1	1	0
S1PR4	8698	broad.mit.edu	37	19	3179456	3179456	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:3179456C>G	ENST00000246115.3	+	1	721	c.666C>G	c.(664-666)ctC>ctG	p.L222L	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	222					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						TCATGGGCCTCTATGGGGCCA	0.672000													94	289					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24310504	24310504	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:24310504C>T	ENST00000357002.4	+	4	1817	c.1702C>T	c.(1702-1704)Cat>Tat	p.H568Y	ZNF254_ENST00000342944.6_Missense_Mutation_p.H483Y	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	568					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TAAGAGAATTCATACTGGAGA	0.333000													12	42					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80541961	80541961	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:80541961C>T	ENST00000335255.5	+	6	1350	c.1176C>T	c.(1174-1176)agC>agT	p.S392S		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	392					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CCCCTGAGAGCCTGTCGAGGG	0.647000													11	48					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5922489	5922489	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:5922489G>A	ENST00000399933.3	-	8	3506	c.3507C>T	c.(3505-3507)ttC>ttT	p.F1169F	KIAA2026_ENST00000381461.2_Silent_p.F1139F	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1169										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGTTTTGTTGAAAGCTGTAT	0.358000													34	59					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44195021	44195021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:44195021C>T	ENST00000313248.7	+	3	269	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	SLC29A1_ENST00000371731.1_5'UTR|SLC29A1_ENST00000371708.1_5'UTR|SLC29A1_ENST00000371713.1_5'UTR|SLC29A1_ENST00000371740.5_5'UTR|SLC29A1_ENST00000371724.1_5'UTR|SLC29A1_ENST00000393841.1_5'UTR|SLC29A1_ENST00000427851.2_5'UTR|SLC29A1_ENST00000393844.1_5'UTR|SLC29A1_ENST00000371755.3_5'UTR			Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	0					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	AGGGAGCTGTCAGCCAGGGAA	0.627000													8	30					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127954931	127954931	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:127954931G>C	ENST00000223073.2	-	17	2045	c.1931C>G	c.(1930-1932)tCt>tGt	p.S644C	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Missense_Mutation_p.S503C	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28						mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CCATGAGGTAGAGCCCGCCTT	0.577000													101	274					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38519699	38519699	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:38519699C>T	ENST00000352511.4	+	4	910	c.438C>T	c.(436-438)atC>atT	p.I146I		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB						activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		TGCTGCCCATCGGGGGCCTTT	0.627000													6	73					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33358786	33358786	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:33358786C>T	ENST00000334528.9	-	1	1299	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	FMN1_ENST00000558197.1_Missense_Mutation_p.E434K|FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	184	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GACTCCTTCTCATGTCTCATC	0.507000													16	36					0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370779	26370779	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:26370779C>T	ENST00000356386.2	+	5	851	c.663C>T	c.(661-663)atC>atT	p.I221I	BTN3A2_ENST00000396934.3_Silent_p.I198I|BTN3A2_ENST00000508906.2_Silent_p.I179I|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000377708.2_Silent_p.I221I|BTN3A2_ENST00000396948.1_Silent_p.I221I|BTN3A2_ENST00000527422.1_Silent_p.I221I	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	221						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TATCCTGCATCATCAGAAATT	0.547000													43	176					0	0	1	0	0
ISOC2	79763	broad.mit.edu	37	19	55964744	55964744	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:55964744G>A	ENST00000438389.2	-	5	1173	c.339C>T	c.(337-339)ctC>ctT	p.L113L	ISOC2_ENST00000425675.2_Silent_p.L183L|ISOC2_ENST00000085068.3_Silent_p.L199L	NM_001136202.1	NP_001129674.1	Q96AB3	ISOC2_HUMAN	isochorismatase domain containing 2	183					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GCTCCTTGATGAGTTTCTGGA	0.592000													6	20					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34913061	34913061	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:34913061G>C	ENST00000304718.4	+	4	629	c.313G>C	c.(313-315)Gag>Cag	p.E105Q		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	105					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CCAGCTTGTAGAGTCTGGAAA	0.498000													26	112					0	0	1	0	0
AKAP5	9495	broad.mit.edu	37	14	64935800	64935800	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:64935800C>G	ENST00000394718.4	+	2	1066	c.688C>G	c.(688-690)Ctt>Gtt	p.L230V	ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.L230V|ZBTB25_ENST00000555424.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5						energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AACTCTAATCCTTGAAGAAAT	0.403000													99	115					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62893334	62893334	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:62893334G>A	ENST00000584306.1	-	3	572	c.42C>T	c.(40-42)tcC>tcT	p.S14S	RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000319651.5_Silent_p.S14S|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	14						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AACGCAGCGGGGACATGACAC	0.602000													38	282					0	0	1	0	0
C21orf59	56683	broad.mit.edu	37	21	33974618	33974618	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr21:33974618C>G	ENST00000290155.3	-	6	1348	c.726G>C	c.(724-726)ctG>ctC	p.L242L	AP000275.65_ENST00000553001.1_Intron|C21orf59_ENST00000382549.4_3'UTR	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	242						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						AGTACAGCATCAGCTGCTTCT	0.532000													6	116					0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43026976	43026976	+	Missense_Mutation	SNP	G	G	A	rs142587038		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:43026976G>A	ENST00000361740.4	-	4	343	c.344C>T	c.(343-345)tCg>tTg	p.S115L	CYB5R3_ENST00000407332.1_Missense_Mutation_p.S59L|CYB5R3_ENST00000396303.3_Missense_Mutation_p.S59L|CYB5R3_ENST00000407623.3_Missense_Mutation_p.S59L|CYB5R3_ENST00000352397.5_Missense_Mutation_p.S82L|CYB5R3_ENST00000402438.1_Missense_Mutation_p.S59L	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	82	FAD-binding FR-type.				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	AATTCGAGCCGAGAGGTAGAT	0.592000													13	35					0	0	1	0	0
RBM38	55544	broad.mit.edu	37	20	55982881	55982881	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:55982881G>A	ENST00000356208.5	+	4	874	c.699G>A	c.(697-699)ctG>ctA	p.L233L	RBM38_ENST00000371219.2_Silent_p.L152L	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	233					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CGCCGCAGCTGCAGCCTGACA	0.672000													4	11					0	0	1	0	0
RBM38	55544	broad.mit.edu	37	20	55982650	55982650	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:55982650G>A	ENST00000356208.5	+	4	643	c.468G>A	c.(466-468)gtG>gtA	p.V156V	RBM38_ENST00000440234.2_3'UTR|RBM38_ENST00000371219.2_Silent_p.V75V	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	156					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CCAGCGTGGTGATCCCAGCCG	0.652000													25	48					0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428696	128428696	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:128428696G>C	ENST00000465342.2	+	2	1742	c.585G>C	c.(583-585)aaG>aaC	p.K195N	CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.K195N|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	195	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TTAGCTTCAAGAACATGTGTA	0.512000													6	21					0	0	1	0	0
NDUFS7	374291	broad.mit.edu	37	19	1388836	1388836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:1388836C>T	ENST00000313408.7	+	4	150	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000546283.1_Nonsense_Mutation_p.Q43*|NDUFS7_ENST00000539480.1_Nonsense_Mutation_p.Q43*|NDUFS7_ENST00000414651.2_Nonsense_Mutation_p.Q73*|NDUFS7_ENST00000233627.9_Nonsense_Mutation_p.Q43*			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	43					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	TGCCAGCACCCAGCCTGCCCT	0.697000													5	6					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236893	33236893	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:33236893C>A	ENST00000401073.2	+	6	2183	c.2113C>A	c.(2113-2115)Cag>Aag	p.Q705K	KIAA1522_ENST00000373481.3_Missense_Mutation_p.Q657K|KIAA1522_ENST00000373480.1_Missense_Mutation_p.Q646K|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	646	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)				CGCCAGTCCTCAGTCCCCTCC	0.622000													6	101					0.217242	0.217927	1	1	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315415	73315415	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:73315415G>C	ENST00000258098.6	-	3	1571	c.1331C>G	c.(1330-1332)tCt>tGt	p.S444C	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	444					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CACAGCCTCAGAGGAGGCCAC	0.657000													31	167					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20130670	20130670	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:20130670C>G	ENST00000334554.7	+	10	1658	c.1517C>G	c.(1516-1518)tCa>tGa	p.S506*	ZDHHC8_ENST00000405930.3_Nonsense_Mutation_p.S506*|ZDHHC8_ENST00000320602.7_Nonsense_Mutation_p.S414*	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	506						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GGATACCACTCACCCTACCTG	0.721000													39	105					0	0	1	0	0
PPAP2A	8611	broad.mit.edu	37	5	54721826	54721826	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:54721826G>C	ENST00000307259.8	-	5	1011	c.591C>G	c.(589-591)ctC>ctG	p.L197L	PPAP2A_ENST00000264775.5_Silent_p.L198L	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	197					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity	p.L198L(1)|p.L197L(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TGGGGCGTAAGAGTCTTGCCC	0.383000													43	103					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8206968	8206968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:8206968G>A	ENST00000600128.1	-	7	1009	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q199*|FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q199*			Q75N90	FBN3_HUMAN	fibrillin 3	199	TB 1.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCGTCAGCTGATGCTGGCAC	0.647000													10	37					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9988963	9988963	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:9988963C>T	ENST00000412055.1	-	4	2023	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N		NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	632						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GGGCTGGCATCCCAGCCCCGT	0.766000													5	3					0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150311067	150311067	+	RNA	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:150311067G>A	ENST00000520773.1	-	0	2254																											ACATTCATATGGTTTTTCCCC	0.403000													8	24					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5789627	5789627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:5789627C>T	ENST00000328090.5	+	15	4868	c.4243C>T	c.(4243-4245)Cga>Tga	p.R1415*		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1415								p.R1415*(1)									TAAAGAGACACGACCATATCA	0.418000													33	173					0	0	1	0	0
TUBB2A	7280	broad.mit.edu	37	6	3154105	3154105	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:3154105C>T	ENST00000333628.3	-	4	1392	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K		NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	444					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TTTTAAGCCTCGTCCTCGCCC	0.527000													23	87					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678843	100678843	+	Silent	SNP	A	A	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:100678843A>G	ENST00000306151.4	+	3	4210	c.4146A>G	c.(4144-4146)gaA>gaG	p.E1382E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1382	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)					CAACTTCTGAAGGTACCAGCA	0.493000													6	583					0	0	1	0	0
TRAPPC2L	51693	broad.mit.edu	37	16	88926351	88926351	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:88926351C>G	ENST00000565504.1	+	4	369	c.345C>G	c.(343-345)ttC>ttG	p.F115L	TRAPPC2L_ENST00000301021.3_Missense_Mutation_p.F115L|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.F85L|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.F115L|TRAPPC2L_ENST00000564365.1_Missense_Mutation_p.F34L|TRAPPC2L_ENST00000567895.1_Missense_Mutation_p.F85L|TRAPPC2L_ENST00000561840.1_Missense_Mutation_p.F105L			Q9UL33	TPC2L_HUMAN	trafficking protein particle complex 2-like	115					ER to Golgi vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm				lung(4)|pancreas(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.0477)		GCAACCCCTTCTACAACCCGG	0.517000													61	166					0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102641127	102641127	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:102641127G>A	ENST00000332549.3	+	7	1113	c.884G>A	c.(883-885)cGc>cAc	p.R295H	IL1R2_ENST00000441002.1_Missense_Mutation_p.R295H|IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Missense_Mutation_p.R295H	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	295	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GAGGGGCCACGCCAGTAAGTG	0.557000													11	61					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52538633	52538633	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:52538633C>T	ENST00000594154.1	-	5	511	c.299G>A	c.(298-300)aGt>aAt	p.S100N	ZNF432_ENST00000221315.5_Missense_Mutation_p.S100N			O94892	ZN432_HUMAN	zinc finger protein 432	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TTGTTCCACACTCTTCAGCAT	0.348000													17	58					0	0	1	0	0
NDUFS7	374291	broad.mit.edu	37	19	1388564	1388564	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:1388564C>A	ENST00000313408.7	+	3	117	c.94C>A	c.(94-96)Cag>Aag	p.Q32K	NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000546283.1_Missense_Mutation_p.Q32K|NDUFS7_ENST00000539480.1_Missense_Mutation_p.Q32K|NDUFS7_ENST00000414651.2_Missense_Mutation_p.Q32K|NDUFS7_ENST00000233627.9_Missense_Mutation_p.Q32K			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	32					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	AGGTGTCCATCAGAGCGTGGC	0.677000													14	44					6.94344e-10	7.23907e-10	1	1	0
BRCA2	675	broad.mit.edu	37	13	32900416	32900416	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:32900416G>A	ENST00000544455.1	+	6	740	c.513G>A	c.(511-513)gtG>gtA	p.V171V	BRCA2_ENST00000380152.3_Silent_p.V171V	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	171					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAAAGTTTGTGAAGGTAAATA	0.313000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			14	38					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44387282	44387282	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:44387282C>G	ENST00000371477.3	+	9	1488	c.1189C>G	c.(1189-1191)Cca>Gca	p.P397A		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	397	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGTGTAACTCCACAGCGACA	0.433000													28	79					0	0	1	0	0
METTL18	92342	broad.mit.edu	37	1	169761964	169761964	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:169761964G>A	ENST00000310392.4	-	2	1226	c.873C>T	c.(871-873)ctC>ctT	p.L291L	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Silent_p.L291L	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	291						cytoplasm	protein methyltransferase activity			kidney(1)|large_intestine(3)|lung(4)	8						TTTCTGAGGTGAGAATGAGAT	0.343000													4	38					0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107531711	107531711	+	Missense_Mutation	SNP	C	C	G	rs147628793		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:107531711C>G	ENST00000205402.5	+	1	297	c.16C>G	c.(16-18)Cgt>Ggt	p.R6G	DLD_ENST00000437604.2_Missense_Mutation_p.R6G|DLD_ENST00000440410.1_Missense_Mutation_p.R6G|DLD_ENST00000537148.1_5'UTR	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	6					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	GAGCTGGAGTCGTGTGTACTG	0.622000													12	61					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132549291	132549291	+	Missense_Mutation	SNP	C	C	T	rs141078899		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:132549291C>T	ENST00000333577.4	+	49	8630	c.8521C>T	c.(8521-8523)Ccg>Tcg	p.P2841S	EP400_ENST00000330386.6_Missense_Mutation_p.P2724S|EP400_ENST00000389562.2_Missense_Mutation_p.P2804S|EP400_ENST00000332482.4_Missense_Mutation_p.P2768S|EP400_ENST00000389561.2_Missense_Mutation_p.P2805S			Q96L91	EP400_HUMAN	E1A binding protein p400	2841					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)		GTCTGCGCCCCCGCAGCCAAC	0.627000													35	93					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764435	110764435	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:110764435C>T	ENST00000451085.1	+	4	2653	c.1607C>T	c.(1606-1608)tCa>tTa	p.S536L	LRRN3_ENST00000422987.3_Missense_Mutation_p.S536L|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S536L|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	536	Fibronectin type-III.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAGGCCAATTCAGTTTTGGTG	0.378000													15	39					0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24239106	24239106	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:24239106C>T	ENST00000338315.4	+	3	303	c.303C>T	c.(301-303)ttC>ttT	p.F101F	MFSD2B_ENST00000406420.3_Silent_p.F101F			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	101					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CTGGGTTCTTCATCAACAGGA	0.607000													6	58					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32942329	32942329	+	Silent	SNP	T	T	C	rs148450256		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:32942329T>C	ENST00000395289.2	+	3	1721	c.120T>C	c.(118-120)taT>taC	p.Y40Y	BRD2_ENST00000374831.4_Silent_p.Y40Y|BRD2_ENST00000374825.4_Silent_p.Y40Y|BRD2_ENST00000395287.1_Silent_p.Y40Y|BRD2_ENST00000449085.2_5'UTR|BRD2_ENST00000443797.2_5'UTR			P25440	BRD2_HUMAN	bromodomain containing 2	40					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTCTCTTGTATGAGGGCTTTG	0.582000													24	112					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219674351	219674351	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:219674351C>T	ENST00000258415.4	+	2	734	c.307C>T	c.(307-309)Cag>Tag	p.Q103*		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	103					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CTTAGGGCCTCAGATGCACGT	0.547000													29	109					0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67073738	67073738	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:67073738C>T	ENST00000288840.5	+	4	2387	c.1356C>T	c.(1354-1356)ccC>ccT	p.P452P	SMAD6_ENST00000338426.4_Silent_p.P191P	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	452	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CGCCCGAGCCCGACGCCGCCG	0.726000													32	59					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101300374	101300374	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:101300374G>C	ENST00000519449.1	-	3	345	c.29C>G	c.(28-30)tCt>tGt	p.S10C	RNF19A_ENST00000341084.2_Missense_Mutation_p.S10C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	10					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATTATATTTAGAGATAAAACC	0.353000													17	35					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30516709	30516709	+	Splice_Site	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:30516709G>T	ENST00000356798.6	+	20	2472		c.e20-1		ITGAL_ENST00000358164.5_Splice_Site|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)						blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGGTGTTTCAGATCCCTTTTG	0.542000													35	160					3.21399e-22	3.48791e-22	1	1	0
LYST	1130	broad.mit.edu	37	1	235915462	235915462	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:235915462C>T	ENST00000389794.3	-	27	7644	c.7470G>A	c.(7468-7470)atG>atA	p.M2490I	LYST_ENST00000389793.2_Missense_Mutation_p.M2490I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2490					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TATATTCACTCATGGGAATGC	0.303000													10	31					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106793284	106793284	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:106793284G>T	ENST00000276185.4	+	7	507	c.507G>T	c.(505-507)atG>atT	p.M169I	FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	169						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CACAGAAAATGATGAAGAAGG	0.448000													3	3					1	1	1	1	0
SCARF2	91179	broad.mit.edu	37	22	20781775	20781775	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:20781775C>G	ENST00000405555.3	-	10	1673	c.1603G>C	c.(1603-1605)Gag>Cag	p.E535Q	SCARF2_ENST00000266214.5_Missense_Mutation_p.E540Q	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	535					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGGGCTGCTCCAGCCCTGAG	0.602000													18	60					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129785439	129785439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:129785439C>T	ENST00000421865.2	+	50	7046	c.6997C>T	c.(6997-6999)Cag>Tag	p.Q2333*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2333					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTCAGTCCTCAGGTGGAAGA	0.428000													38	78					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50595890	50595890	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:50595890G>C	ENST00000444124.2	-	6	859	c.659C>G	c.(658-660)tCt>tGt	p.S220C	DDC_ENST00000426377.1_Missense_Mutation_p.S142C|DDC_ENST00000431062.1_Intron|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Missense_Mutation_p.S220C|DDC_ENST00000380984.4_Missense_Mutation_p.S220C	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	220					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CTGCAGGGCAGACGCACGCAT	0.522000													46	135					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701697	56701697	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:56701697G>C	ENST00000586855.2	-	5	1300	c.987C>G	c.(985-987)atC>atG	p.I329M	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.I329M			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	329					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAACTGGATTGATCTCAGCTT	0.557000													55	165					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9964875	9964875	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:9964875G>A	ENST00000264833.4	-	6	1537	c.1352C>T	c.(1351-1353)tCt>tTt	p.S451F	OLFM2_ENST00000590841.1_Missense_Mutation_p.S373F	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	451						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GGGGTCCCCAGAGGTGCTGAT	0.622000													20	57					0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197187	26197187	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:26197187C>T	ENST00000377831.5	-	2	745	c.292G>A	c.(292-294)Gag>Aag	p.E98K	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.E98K	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.E98*(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				AGGTAGGCCTCGCAGGCCTCC	0.587000													14	120					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242662478	242662478	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:242662478G>A	ENST00000313552.6	+	6	633	c.607G>A	c.(607-609)Gac>Aac	p.D203N	ING5_ENST00000406941.1_Missense_Mutation_p.D203N	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	203					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GATTGGCTGTGACAATCCAGA	0.592000													32	57					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13470482	13470482	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:13470482C>G	ENST00000558378.1	-	2	553	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	GFOD1_ENST00000603223.1_3'UTR|GFOD1_ENST00000379278.3_5'UTR|GFOD1_ENST00000379287.3_Intron																							ATTGCCGGCTCATGAAGCACA	0.567000													7	28					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108043491	108043491	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:108043491G>C	ENST00000278612.8	-	13	2325	c.2220C>G	c.(2218-2220)ctC>ctG	p.L740L	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	740					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGATAACTTTGAGAGAGACGA	0.383000													38	118					0	0	1	0	0
TBKBP1	9755	broad.mit.edu	37	17	45787908	45787908	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:45787908C>A	ENST00000361722.3	+	9	2613	c.1764C>A	c.(1762-1764)ctC>ctA	p.L588L		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	588					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GCTGCCCCCTCTGCCAGCTGG	0.612000													32	67					2.61193e-14	2.79015e-14	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22363473	22363473	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:22363473G>T	ENST00000397121.2	-	3	1363	c.1046C>A	c.(1045-1047)tCc>tAc	p.S349Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAGGATTGAGGATCGATTAAA	0.403000													26	86					4.7796e-09	4.95067e-09	1	1	0
RNF219	79596	broad.mit.edu	37	13	79190637	79190637	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:79190637G>C	ENST00000282003.6	-	6	1317	c.1259C>G	c.(1258-1260)tCa>tGa	p.S420*	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	420							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GAGATGGTTTGAGTGCTTTTT	0.383000													42	83					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123657344	123657344	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:123657344C>T	ENST00000422452.2	-	17	2966	c.2903G>A	c.(2902-2904)aGa>aAa	p.R968K	TENM1_ENST00000371130.3_Missense_Mutation_p.R968K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGATACAACTCTCTGCATGGT	0.483000													23	39					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026437	197026437	+	Missense_Mutation	SNP	T	T	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:197026437T>C	ENST00000367412.1	-	6	1007	c.964A>G	c.(964-966)Aca>Gca	p.T322A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	322	Sushi 5.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGAGGTTCTGTCCATTTTCCA	0.363000													21	97					0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21333009	21333009	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:21333009G>C	ENST00000359039.4	-	1	2370	c.1850C>G	c.(1849-1851)tCt>tGt	p.S617C	KLHL9_ENST00000537938.1_Missense_Mutation_p.S549C			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	617					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTAGACCTAAGAATGATCTGA	0.428000													22	36					0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6641236	6641236	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:6641236C>T	ENST00000377674.4	+	2	725	c.567C>T	c.(565-567)ctC>ctT	p.L189L		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	189						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CCTCCTCCCTCTGTGGGAAAC	0.612000													39	93					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98592432	98592432	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:98592432G>C	ENST00000359863.4	+	66	10437	c.10228G>C	c.(10228-10230)Gac>Cac	p.D3410H	TRRAP_ENST00000355540.3_Missense_Mutation_p.D3381H|TRRAP_ENST00000446306.3_Missense_Mutation_p.D3399H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3410					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)			CACTGCACAAGACCCTGTCTT	0.582000													89	200					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603375	48603375	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:48603375C>G	ENST00000323776.5	+	14	2207	c.2045C>G	c.(2044-2046)tCt>tGt	p.S682C	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S645C	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	645					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GAGAAGGCCTCTGTGAATGCT	0.622000													49	113					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229773910	229773910	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:229773910C>G	ENST00000258243.2	+	4	3686	c.3550C>G	c.(3550-3552)Ctg>Gtg	p.L1184V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1184						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTTTTTGACTCTGTTCTTTTT	0.463000													29	91					0	0	1	0	0
CDK5R1	8851	broad.mit.edu	37	17	30814708	30814708	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:30814708G>A	ENST00000313401.3	+	2	759	c.70G>A	c.(70-72)Gtg>Atg	p.V24M		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	24					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CGCGGCCACCGTGGGCCACTA	0.647000													17	81					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25415783	25415783	+	RNA	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:25415783C>A	ENST00000553149.1	+	0	260																											CAGGCCATTCCTGATGCCCTG	0.642000													35	88					8.4185e-14	8.97285e-14	1	1	0
WDR11	55717	broad.mit.edu	37	10	122633428	122633428	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:122633428G>A	ENST00000263461.6	+	11	1795	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	517						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CCACTCATGTGAAGTCAAGTA	0.368000													23	91					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214775	3214775	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:3214775G>C	ENST00000380059.3	-	5	707	c.606C>G	c.(604-606)ctC>ctG	p.L202L	SLC4A11_ENST00000380056.3_Silent_p.L175L|SLC4A11_ENST00000539553.2_Silent_p.L159L	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	175					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCATGGCCATGAGCAGGTCCA	0.667000													66	155					0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11624667	11624667	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:11624667G>A	ENST00000270517.7	-	3	601	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	ECSIT_ENST00000252440.7_Missense_Mutation_p.R156W|ECSIT_ENST00000592312.1_Missense_Mutation_p.R40W|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000591104.1_Missense_Mutation_p.R156W	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	156					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TCCTGCTGCCGAGGGTAGTGG	0.617000													13	65					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31669325	31669325	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:31669325G>C	ENST00000395934.2	+	8	971	c.964G>C	c.(964-966)Gat>Cat	p.D322H	ELP4_ENST00000350638.5_Missense_Mutation_p.D322H|Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000379163.5_Missense_Mutation_p.D323H			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	322					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	p.D322Y(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AACCTTGTCAGATGTAGTAGT	0.323000													52	74					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31415926	31415926	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:31415926C>A	ENST00000225823.2	-	3	1814	c.942G>T	c.(940-942)ggG>ggT	p.G314G	ASIC2_ENST00000448983.1_5'UTR|ASIC2_ENST00000359872.6_Silent_p.G263G	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	263					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTGGAGCCACCCCAAAGCCCA	0.557000													20	58					2.4624e-09	2.55886e-09	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11676128	11676128	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:11676128C>G	ENST00000423059.4	-	2	902	c.651G>C	c.(649-651)cgG>cgC	p.R217R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATGACGCGTCCGGTGCTGGA	0.617000										HNSCC(18;0.044)			16	37					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86386038	86386038	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:86386038G>A	ENST00000285379.5	+	3	579	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	117					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	ATATGCTGCAGAAGTAAGATA	0.338000													25	83					0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132414283	132414283	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:132414283C>T	ENST00000376649.3	+	1	516	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	PUS1_ENST00000443358.2_Intron|PUS1_ENST00000440818.2_Intron|PUS1_ENST00000542167.2_Intron	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	6						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCTCCAGCTTCGCGCGCTGTT	0.726000													7	42					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145560915	145560915	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:145560915C>T	ENST00000355594.4	+	9	859	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	258										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCACCCAGATCTCGCATCCCA	0.488000													20	108					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24745822	24745822	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:24745822G>A	ENST00000545231.1	-	10	1822	c.672C>T	c.(670-672)ttC>ttT	p.F224F	DFNA5_ENST00000342947.3_Silent_p.F388F|DFNA5_ENST00000409970.1_Silent_p.F224F|DFNA5_ENST00000409775.3_Silent_p.F388F|DFNA5_ENST00000419307.1_Silent_p.F224F			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	388					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CACTGACCAAGAAGTAGGCTG	0.532000													31	79					0	0	1	0	0
ASB11	140456	broad.mit.edu	37	X	15320872	15320872	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:15320872G>A	ENST00000537676.1	-	2	248	c.176C>T	c.(175-177)gCc>gTc	p.A59V	ASB11_ENST00000344384.4_Missense_Mutation_p.A59V|ASB11_ENST00000380470.3_Missense_Mutation_p.A80V|ASB11_ENST00000480796.1_Missense_Mutation_p.A80V			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	80					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AGTTTTAAGGGCCAGTAAGCG	0.433000													18	31					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46347444	46347444	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:46347444C>T	ENST00000245934.7	-	8	935	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	231					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GCCTTGCCCTCTTCCCATAGC	0.557000													39	101					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505708	195505708	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:195505708G>A	ENST00000463781.3	-	2	13202	c.12743C>T	c.(12742-12744)tCa>tTa	p.S4248L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S4248L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1005					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGAAGCTGAGGTAGCACT	0.582000													6	28					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28358811	28358811	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:28358811C>G	ENST00000261609.7	-	91	14035	c.13927G>C	c.(13927-13929)Gat>Cat	p.D4643H		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4643	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCTGCTCATCAAATTCATGG	0.527000													18	45					0	0	1	0	0
BMP8B	656	broad.mit.edu	37	1	40228859	40228859	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:40228859G>A	ENST00000372827.3	-	6	1339	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	PPIE_ENST00000356511.2_Intron|PPIE_ENST00000372830.1_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	322					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TAGCCTTGGGGAGCGATGACC	0.632000													63	117					0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155582217	155582217	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:155582217G>A	ENST00000245564.2	+	9	846	c.822G>A	c.(820-822)caG>caA	p.Q274Q	MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000368341.4_Silent_p.Q239Q|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	274					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					AGGAGGCCCAGAGAAACATCT	0.502000													21	116					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828765	59828765	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:59828765G>C	ENST00000278865.3	+	2	205	c.132G>C	c.(130-132)caG>caC	p.Q44H	MS4A3_ENST00000358152.2_Missense_Mutation_p.Q44H|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000534744.1_Missense_Mutation_p.Q44H|MS4A3_ENST00000395032.2_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	44						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAGATTATCAGAAAGCAAAAT	0.453000													52	119					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007499	58007499	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:58007499G>C	ENST00000286494.4	+	5	968	c.508G>C	c.(508-510)Gaa>Caa	p.E170Q	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.E209Q	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	170	DH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGAACTGGTAGAAACAGAGAA	0.577000													11	31					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768478	148768478	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:148768478G>T	ENST00000316286.9	-	3	1400	c.1128C>A	c.(1126-1128)ttC>ttA	p.F376L	ZNF786_ENST00000491431.1_Missense_Mutation_p.F462L|ZNF786_ENST00000451334.3_Missense_Mutation_p.F425L			Q8N393	ZN786_HUMAN	zinc finger protein 786	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCTCTGACGGAAGTTCCTGC	0.612000													14	17					7.93312e-07	8.15515e-07	1	1	0
MIR31HG	554202	broad.mit.edu	37	9	21455645	21455645	+	RNA	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:21455645G>A	ENST00000304425.3	-	0	740					NR_027054.1																						GTGTCTAAAGGACAGAAGTGA	0.498000													14	16					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217142472	217142472	+	Missense_Mutation	SNP	G	G	A	rs2287562		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:217142472G>A	ENST00000273067.4	-	3	2554	c.788C>T	c.(787-789)tCg>tTg	p.S263L		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	263						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCATCTTGCCGAGGGGCTGAA	0.557000													64	132					0	0	1	0	0
DCUN1D2	55208	broad.mit.edu	37	13	114135050	114135050	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:114135050C>T	ENST00000478244.1	-	3	511	c.229G>A	c.(229-231)Gat>Aat	p.D77N	DCUN1D2_ENST00000375399.2_Missense_Mutation_p.D77N|DCUN1D2_ENST00000460318.1_5'UTR|DCUN1D2_ENST00000332592.3_Intron	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	77	DCUN1.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			TTGTTTTCATCTTGTGGATCT	0.373000													28	64					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5959560	5959560	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:5959560G>A	ENST00000379999.5	+	13	2141	c.2037G>A	c.(2035-2037)ttG>ttA	p.L679L	FBXO18_ENST00000362091.4_Silent_p.L628L|FBXO18_ENST00000397269.3_Silent_p.L115L	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	628					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TAGGCTACTTGAAACTCTGGC	0.557000													9	38					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124761614	124761614	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:124761614G>A	ENST00000306534.3	-	11	2117	c.1632C>T	c.(1630-1632)ctC>ctT	p.L544L	ROBO4_ENST00000533054.1_Silent_p.L399L|RP11-664I21.6_ENST00000524433.1_Intron	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	544					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCCGACTGCTGAGGCTGCTGC	0.652000													22	92					0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46655654	46655654	+	Missense_Mutation	SNP	C	C	T	rs150351855		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:46655654C>T	ENST00000371992.1	-	20	2307	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Missense_Mutation_p.E553K|POMGNT1_ENST00000371986.3_Missense_Mutation_p.E553K|POMGNT1_ENST00000535522.1_Missense_Mutation_p.E531K	NM_001243766.1	NP_001230695	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	553					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TCCAGAACCTCAGCCTCACTG	0.522000													16	37					0	0	1	0	0
C12orf55	144535	broad.mit.edu	37	12	97114300	97114300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:97114300C>T	ENST00000524981.4	+	50	6945	c.6922C>T	c.(6922-6924)Cag>Tag	p.Q2308*						chromosome 12 open reading frame 55																		GGCCCGGCTTCAGCTGGCTGC	0.592000													3	5					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242758308	242758308	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:242758308C>A	ENST00000391969.2	+	5	2100	c.1389C>A	c.(1387-1389)aaC>aaA	p.N463K	NEU4_ENST00000404257.1_Missense_Mutation_p.N475K|NEU4_ENST00000407683.1_Missense_Mutation_p.N463K|NEU4_ENST00000405370.1_Missense_Mutation_p.N463K|NEU4_ENST00000325935.6_Missense_Mutation_p.N476K	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	463						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TCCTGGAGAACGTGCCCGCCA	0.642000													9	20					0.00448238	0.00453461	1	1	0
FAT3	120114	broad.mit.edu	37	11	92534813	92534813	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:92534813G>C	ENST00000298047.6	+	9	8651	c.8634G>C	c.(8632-8634)ttG>ttC	p.L2878F	FAT3_ENST00000409404.2_Missense_Mutation_p.L2878F|FAT3_ENST00000525166.1_Missense_Mutation_p.L2728F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2878	Cadherin 26.				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)				TCAGTACCTTGAAGGACCTAG	0.522000										TCGA Ovarian(4;0.039)			17	41					0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10479570	10479570	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:10479570G>C	ENST00000538557.1	+	12	1511	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	PGD_ENST00000270776.8_Missense_Mutation_p.E436Q|PGD_ENST00000541529.1_Missense_Mutation_p.E414Q|PGD_ENST00000498356.1_3'UTR			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	436					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GTACAGACATGAGATGCTTCC	0.612000													39	104					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064031	9064031	+	Missense_Mutation	SNP	A	A	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:9064031A>T	ENST00000397910.4	-	3	23618	c.23415T>A	c.(23413-23415)gaT>gaA	p.D7805E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7807	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAACACTTGTATCCCCCATGG	0.532000													75	177					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63188709	63188709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:63188709C>A	ENST00000399298.3	-	4	948	c.580G>T	c.(580-582)Gag>Tag	p.E194*	TMEM26_ENST00000399293.1_Nonsense_Mutation_p.E194*	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	194						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TCTAGGGTCTCACTTGTGAAT	0.463000													10	46					6.40141e-05	6.53834e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9063820	9063820	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:9063820G>C	ENST00000397910.4	-	3	23829	c.23626C>G	c.(23626-23628)Caa>Gaa	p.Q7876E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7878	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTGTGGATTGAGCGGGACCT	0.507000													33	117					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28389103	28389103	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:28389103C>T	ENST00000261609.7	-	74	11442	c.11334G>A	c.(11332-11334)ctG>ctA	p.L3778L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3778					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCAGCTTCCTCAGTCTCTGAA	0.438000													60	127					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52972099	52972099	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:52972099C>T	ENST00000349258.4	-	3	833	c.289G>A	c.(289-291)Ggt>Agt	p.G97S	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.G97S	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	97						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CAGTAGTCACCAGCCTCCTTG	0.493000													44	58					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179143173	179143173	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:179143173C>G	ENST00000247461.4	+	8	989	c.789C>G	c.(787-789)ctC>ctG	p.L263L	CANX_ENST00000504734.1_Silent_p.L263L|CANX_ENST00000415618.2_Silent_p.L298L|CANX_ENST00000452673.2_Silent_p.L263L|CANX_ENST00000512607.2_Silent_p.L155L|CANX_ENST00000503126.1_3'UTR	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	263					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAATCTGCTCAATGACATGA	0.403000													50	119					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219540917	219540917	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:219540917C>T	ENST00000295709.3	+	6	879	c.600C>T	c.(598-600)ttC>ttT	p.F200F	STK36_ENST00000440309.1_Silent_p.F200F|STK36_ENST00000392105.3_Silent_p.F200F|STK36_ENST00000392106.2_Silent_p.F200F	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	200	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCCCTCCCTTCTATGCTACAA	0.522000													22	122					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21137292	21137292	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:21137292C>T	ENST00000602326.1	-	34	5116	c.4533G>A	c.(4531-4533)gaG>gaA	p.E1511E	EIF4G3_ENST00000264211.8_Silent_p.E1505E|EIF4G3_ENST00000536266.1_Silent_p.E1109E|EIF4G3_ENST00000374935.3_Silent_p.E1225E|EIF4G3_ENST00000537738.1_Silent_p.E995E|EIF4G3_ENST00000374937.3_Silent_p.E1511E|EIF4G3_ENST00000400422.1_Silent_p.E1505E	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1505	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GCAGTTCCTTCTCTGTATCTG	0.413000													28	126					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79419758	79419758	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:79419758G>A	ENST00000307745.7	+	18	4326	c.4326G>A	c.(4324-4326)gaG>gaA	p.E1442E																								GGAGAGACGAGAGTTCACGGA	0.697000													6	26					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62522214	62522214	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:62522214G>C	ENST00000383710.4	-	12	2358	c.2009C>G	c.(2008-2010)tCt>tGt	p.S670C	CADPS_ENST00000357948.3_Missense_Mutation_p.S670C|CADPS_ENST00000283269.9_Missense_Mutation_p.S670C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	670					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGGGTTGGAAGAGATAAATTC	0.398000													47	181					0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99040030	99040030	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:99040030G>A	ENST00000254898.5	+	14	2560	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	MATN2_ENST00000524308.1_Missense_Mutation_p.E736K|MATN2_ENST00000521689.1_Missense_Mutation_p.E777K|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.E777K|MATN2_ENST00000522025.2_Missense_Mutation_p.E493K	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	777	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGACGTCTCCGAGTGGGCCAG	0.552000													25	70					0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60232244	60232244	+	Missense_Mutation	SNP	T	T	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:60232244T>G	ENST00000269499.5	+	11	2179	c.1761T>G	c.(1759-1761)atT>atG	p.I587M	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.I266M	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	587					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGGAGAAAATTAAGAAAACTG	0.338000													8	49					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152506791	152506791	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:152506791C>T	ENST00000427231.2	-	54	7532	c.7330G>A	c.(7330-7332)Gag>Aag	p.E2444K	NEB_ENST00000172853.10_Missense_Mutation_p.E2444K|NEB_ENST00000409198.1_Missense_Mutation_p.E2444K|NEB_ENST00000604864.1_Missense_Mutation_p.E2444K|NEB_ENST00000603639.1_Missense_Mutation_p.E2444K|NEB_ENST00000397345.3_Missense_Mutation_p.E2444K	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2444					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TATTTCTTCTCACTGATGATT	0.443000													29	70					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524111	51524111	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:51524111C>T	ENST00000371117.3	-	61	11088	c.10813G>A	c.(10813-10815)Gaa>Aaa	p.E3605K		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3605					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGGTCTCTTCATGGCCAGGC	0.413000													16	88					0	0	1	0	0
LRAT	9227	broad.mit.edu	37	4	155665756	155665756	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:155665756C>G	ENST00000336356.3	+	2	531	c.278C>G	c.(277-279)tCc>tGc	p.S93C	LRAT_ENST00000507827.1_Missense_Mutation_p.S93C	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	93					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	AAGGTGGTCTCCAACAAGCGT	0.567000													10	50					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732																											cagagtgatttcggatgaatt	0.507000													5	87					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83331641	83331641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:83331641C>A	ENST00000261722.3	-	22	2788	c.2581G>T	c.(2581-2583)Gag>Tag	p.E861*	AP3B2_ENST00000535348.1_Nonsense_Mutation_p.E829*|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Nonsense_Mutation_p.E880*	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	861					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCAGCAGCTCCTGCCGCCCA	0.612000													6	33					5.18039e-06	5.31394e-06	1	1	0
BRD9	65980	broad.mit.edu	37	5	881225	881225	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:881225C>G	ENST00000323510.4	-	6	750	c.751G>C	c.(751-753)Gat>Cat	p.D251H	BRD9_ENST00000467963.1_Missense_Mutation_p.D347H|BRD9_ENST00000483173.1_Missense_Mutation_p.D294H|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000388890.4_Missense_Mutation_p.D231H|BRD9_ENST00000435709.2_Intron			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	347							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CACCCACCATCAGCGTCCGGC	0.587000													25	52					0	0	1	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130689458	130689458	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:130689458G>A	ENST00000388747.4	-	7	668	c.624C>T	c.(622-624)ttC>ttT	p.F208F	PIP5KL1_ENST00000300432.3_Silent_p.F5F|PIP5KL1_ENST00000490773.1_5'UTR	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	208	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CGGCGGGGTAGAAGACGCTCT	0.687000													10	16					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64796345	64796345	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:64796345G>A	ENST00000422803.1	+	4	2521	c.2207G>A	c.(2206-2208)cGa>cAa	p.R736Q	AFTPH_ENST00000238855.7_Missense_Mutation_p.R736Q|AFTPH_ENST00000409933.1_Missense_Mutation_p.R736Q|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238856.4_Missense_Mutation_p.R736Q|AFTPH_ENST00000409183.1_Missense_Mutation_p.R367Q			Q6ULP2	AFTIN_HUMAN	aftiphilin	736					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATAGACACCCGAAACATTGTG	0.413000													34	87					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88110195	88110195	+	Splice_Site	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:88110195G>A	ENST00000393207.1	+	14	1709		c.e14-1		BANP_ENST00000355163.5_Splice_Site|BANP_ENST00000538234.1_Splice_Site|BANP_ENST00000355022.4_Splice_Site|BANP_ENST00000481948.1_Splice_Site|BANP_ENST00000393208.2_Splice_Site|BANP_ENST00000286122.7_Splice_Site|BANP_ENST00000479780.2_Splice_Site	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein						cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCTTTTGCAGACGGCCGAAG	0.582000													8	42					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55690754	55690754	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:55690754G>A	ENST00000379906.2	+	1	403	c.148G>A	c.(148-150)Gac>Aac	p.D50N	SLC6A2_ENST00000566163.1_Missense_Mutation_p.D50N|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D50N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D50N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D50N|SLC6A2_ENST00000414754.3_Missense_Mutation_p.D50N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	50					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGCGCCCCGCGACGGCGACGC	0.697000													32	87					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113513759	113513759	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:113513759C>G	ENST00000487903.1	+	23	2808	c.2720C>G	c.(2719-2721)tCa>tGa	p.S907*	ATP11A_ENST00000283558.8_Nonsense_Mutation_p.S907*|ATP11A_ENST00000375645.3_Nonsense_Mutation_p.S907*|ATP11A_ENST00000375630.2_Nonsense_Mutation_p.S907*			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	907					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			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGTGGGTTTTCACAACAGGTC	0.527000													55	100					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54951479	54951479	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:54951479G>C	ENST00000173898.7	+	6	1575	c.1463G>C	c.(1462-1464)cGa>cCa	p.R488P	TRO_ENST00000319167.8_Missense_Mutation_p.R488P|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000375041.2_Missense_Mutation_p.R91P|TRO_ENST00000399736.1_Missense_Mutation_p.R91P|TRO_ENST00000420798.2_Missense_Mutation_p.R19P|TRO_ENST00000375022.4_Missense_Mutation_p.R488P	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	488	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATCATTGAACGAGCAAGCTAC	0.488000													15	18					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17589721	17589721	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:17589721G>A	ENST00000319363.6	+	13	1745	c.1612G>A	c.(1612-1614)Gac>Aac	p.D538N		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	538					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCGCATCCAGGACCTGGAGAT	0.706000													13	11					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43445682	43445682	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:43445682G>C	ENST00000282041.5	-	39	6698	c.6664C>G	c.(6664-6666)Caa>Gaa	p.Q2222E	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2222					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGAGGAATTGAACCATCTGA	0.383000													21	94					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121972449	121972449	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:121972449C>T	ENST00000377069.4	-	7	1043	c.637G>A	c.(637-639)Gac>Aac	p.D213N	KDM2B_ENST00000543852.1_Missense_Mutation_p.D13N|KDM2B_ENST00000536437.1_Missense_Mutation_p.D127N|KDM2B_ENST00000377071.4_Missense_Mutation_p.D244N|KDM2B_ENST00000538046.2_Missense_Mutation_p.D244N	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	244	JmjC.				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						CCTCCAAAGTCGATGTGGAAG	0.478000													24	110					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219674418	219674418	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:219674418C>T	ENST00000258415.4	+	2	801	c.374C>T	c.(373-375)cCa>cTa	p.P125L		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	125					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GGCAAGTACCCAGTACGGAAC	0.597000													29	124					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143094927	143094927	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:143094927C>T	ENST00000367603.2	-	5	1691	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E317K|HIVEP2_ENST00000367604.1_Missense_Mutation_p.E317K	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCCAATGATTCTTCCAATGAC	0.478000													40	57					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71865986	71865986	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:71865986C>A	ENST00000377245.4	+	21	3235	c.3027C>A	c.(3025-3027)ttC>ttA	p.F1009L	TJP2_ENST00000453658.2_Intron|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000535702.1_Missense_Mutation_p.F976L|TJP2_ENST00000539225.1_Missense_Mutation_p.F1040L	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1009					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CCTATGACTTCTCCAAATCCT	0.428000													116	176					2.27054e-47	2.49525e-47	1	1	0
CBR3	874	broad.mit.edu	37	21	37507667	37507667	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr21:37507667C>A	ENST00000290354.5	+	1	458	c.177C>A	c.(175-177)ttC>ttA	p.F59L	CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608641.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	59						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						GCCCGCGCTTCCACCAACTGG	0.697000													17	30					8.00594e-06	8.20351e-06	1	1	0
DIS3L	115752	broad.mit.edu	37	15	66618548	66618548	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:66618548G>A	ENST00000319194.5	+	12	2059	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K	DIS3L_ENST00000319212.4_Missense_Mutation_p.E683K|RP11-352G18.2_ENST00000565993.1_RNA	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	683					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACAGTGGCTGAATGCATGAT	0.557000													35	84					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49764791	49764791	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:49764791C>G	ENST00000561648.1	-	3	221	c.168G>C	c.(166-168)gaG>gaC	p.E56D	ZNF423_ENST00000262383.2_Missense_Mutation_p.E56D|ZNF423_ENST00000563137.2_5'UTR|ZNF423_ENST00000562520.1_5'UTR|ZNF423_ENST00000562871.1_5'UTR	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	56					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTTCATCATCCTCATTTCTCT	0.547000													64	281					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52314580	52314580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:52314580G>A	ENST00000550683.1	+	9	1558	c.1457G>A	c.(1456-1458)tGg>tAg	p.W486*	ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.W298*|ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.W472*	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	472	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CGGGAGTGCTGGTACCCAAAC	0.552000													17	68					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80540641	80540641	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:80540641C>G	ENST00000335255.5	+	5	1108	c.934C>G	c.(934-936)Ctg>Gtg	p.L312V		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	312	DNA-binding; major groove.				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CAATCTCTCTCTGAATCGTTA	0.378000													16	61					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52269554	52269554	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:52269554C>T	ENST00000354831.7	-	22	2638	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.E617K|NRD1_ENST00000539524.1_Missense_Mutation_p.E685K|NRD1_ENST00000352171.7_Missense_Mutation_p.E749K	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	748					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGTTTATACTCCAGCTGTGCC	0.393000													12	57					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46281814	46281814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:46281814C>T	ENST00000372004.3	+	22	4465	c.4249C>T	c.(4249-4251)Cag>Tag	p.Q1417*	NCOA3_ENST00000371998.3_Nonsense_Mutation_p.Q1421*|NCOA3_ENST00000341724.6_Nonsense_Mutation_p.Q1347*|NCOA3_ENST00000371997.3_Nonsense_Mutation_p.Q1412*	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1421	Met-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGTCCTGATCAGGTATGGGA	0.428000													24	78					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													4	87					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90119340	90119340	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:90119340G>A	ENST00000268138.7	+	1	628	c.523G>A	c.(523-525)Gag>Aag	p.E175K	TICRR_ENST00000560985.1_Missense_Mutation_p.E175K|RP11-429B14.1_ENST00000559041.1_RNA					TOPBP1-interacting checkpoint and replication regulator																		GTCTGGGTGCGAGGCCCAGGC	0.662000													16	46					0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268974	57268974	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:57268974G>A	ENST00000339475.5	-	5	649	c.373C>T	c.(373-375)Cca>Tca	p.P125S	OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.P117S|OTX2_ENST00000555006.1_Missense_Mutation_p.P117S	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	117					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TCCCGAGCTGGAGATGTCTTC	0.512000													38	44					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504921	151504921	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:151504921G>A	ENST00000317605.4	+	1	1845	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	247					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GGCGGCTGCCGAAACAAGTGC	0.637000													9	70					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42160366	42160366	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:42160366C>G	ENST00000320955.6	-	34	6335	c.6108G>C	c.(6106-6108)caG>caC	p.Q2036H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2036					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GTGCCCAGGTCTGATACACCT	0.657000													4	12					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28030298	28030298	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:28030298G>A	ENST00000375790.5	-	3	756	c.324C>T	c.(322-324)ctC>ctT	p.L108L	MKX_ENST00000419761.1_Silent_p.L108L			Q8IYA7	MKX_HUMAN	mohawk homeobox	108					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TCTGCGAGCCGAGGGCCAAGA	0.587000													75	142					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897517	36897517	+	Silent	SNP	G	G	A	rs149155370	by1000genomes	TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:36897517G>A	ENST00000429976.2	-	12	3811	c.3564C>T	c.(3562-3564)ctC>ctT	p.L1188L	TRANK1_ENST00000428977.2_Silent_p.L638L|TRANK1_ENST00000301807.6_Silent_p.L638L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1188					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCAGGTCCTGGAGTTTGTGAA	0.473000													80	264					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40587246	40587246	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:40587246C>G	ENST00000260402.3	-	18	2046	c.1797G>C	c.(1795-1797)caG>caC	p.Q599H	PLCB2_ENST00000456256.2_Missense_Mutation_p.Q599H|PLCB2_ENST00000557821.1_Missense_Mutation_p.Q595H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	599	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGCGGCTCATCTGGCGCTTGT	0.582000													47	169					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593630	137593630	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:137593630G>C	ENST00000274721.3	-	4	729	c.483C>G	c.(481-483)ctC>ctG	p.L161L	GFRA3_ENST00000378362.3_Silent_p.L130L	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	161					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTTGAGGCAGAGGTCTGAGT	0.642000													16	54					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196953098	196953098	+	Silent	SNP	T	T	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:196953098T>C	ENST00000367414.5	+	3	389	c.333T>C	c.(331-333)tgT>tgC	p.C111C	CFHR5_ENST00000256785.4_Silent_p.C87C	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	87	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TAGGAATGTGTTCCTTTCCTT	0.313000													7	37					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45917027	45917027	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:45917027C>G	ENST00000185206.6	-	3	894	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	CLIC5_ENST00000544153.1_Missense_Mutation_p.E89Q|CLIC5_ENST00000339561.6_Missense_Mutation_p.E89Q	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	248					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AGGAACTCCTCGATCTTATTG	0.532000													27	200					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37357120	37357120	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:37357120G>A	ENST00000217420.1	+	2	1679	c.1416G>A	c.(1414-1416)ctG>ctA	p.L472L		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	472					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GTTTCTTGCTGCCCAGCCTCT	0.627000													43	71					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219674417	219674417	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:219674417C>T	ENST00000258415.4	+	2	800	c.373C>T	c.(373-375)Cca>Tca	p.P125S		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	125					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	GGGCAAGTACCCAGTACGGAA	0.597000													30	121					0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	135974724	135974724	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:135974724C>A	ENST00000471595.1	+	2	228	c.210C>A	c.(208-210)atC>atA	p.I70I	PCCB_ENST00000462637.1_Silent_p.I70I|PCCB_ENST00000468777.1_Silent_p.I70I|PCCB_ENST00000490504.1_Silent_p.I70I|PCCB_ENST00000478469.1_Silent_p.I70I|PCCB_ENST00000483687.1_Silent_p.I70I|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000469217.1_Silent_p.I70I|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000251654.4_Silent_p.I70I|PCCB_ENST00000466072.1_Silent_p.I70I			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	70	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GGGAGAGGATCAGTCTCTTGC	0.453000													33	77					4.11147e-13	4.36273e-13	1	1	0
SMAD3	4088	broad.mit.edu	37	15	67473751	67473751	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:67473751C>G	ENST00000327367.4	+	6	1141	c.831C>G	c.(829-831)gtC>gtG	p.V277V	SMAD3_ENST00000439724.3_Silent_p.V233V|SMAD3_ENST00000540846.2_Silent_p.V172V|SMAD3_ENST00000537194.2_Silent_p.V82V	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	277	MH2.|Sufficient for interaction with XPO4.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TCTCCAATGTCAACAGGAATG	0.627000													27	55					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95477526	95477526	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:95477526G>A	ENST00000356884.6	-	7	2545	c.2478C>T	c.(2476-2478)caC>caT	p.H826H	BICD2_ENST00000375512.3_Intron	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	515					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGCACAGGTGTGACTTACGC	0.657000													24	39					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107012653	107012653	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:107012653G>T	ENST00000369701.3	+	23	3453	c.3226G>T	c.(3226-3228)Gac>Tac	p.D1076Y		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1076						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAATGAAGGGGACCTGGAACA	0.522000													18	40					6.94344e-10	7.23907e-10	1	1	0
ETNK2	55224	broad.mit.edu	37	1	204106259	204106259	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:204106259G>C	ENST00000367199.2	-	5	1190	c.780C>G	c.(778-780)ctC>ctG	p.L260L	ETNK2_ENST00000367198.2_Silent_p.L151L|ETNK2_ENST00000367202.4_Silent_p.L329L|ETNK2_ENST00000367201.3_Silent_p.L329L|ETNK2_ENST00000367197.1_Silent_p.L11L			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	329							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGCACGTAGAGCCTTTGCA	0.602000													32	143					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91691641	91691641	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:91691641G>C	ENST00000359028.2	+	25	6079	c.5854G>C	c.(5854-5856)Gaa>Caa	p.E1952Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E1940Q|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000358100.2_Missense_Mutation_p.E1952Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1952	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCAAATTCAGGAAAAAACTGA	0.343000			T	BRAF	papillary thyroid								50	174					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118387354	118387354	+	RNA	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:118387354G>C	ENST00000537242.1	+	0	572				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		AGGCGGGCAGGAGGCTGGGGG	0.741000													3	5					0	0	1	0	0
DTWD1	56986	broad.mit.edu	37	15	49926832	49926832	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:49926832G>T	ENST00000251250.6	+	5	715	c.508G>T	c.(508-510)Gac>Tac	p.D170Y	DTWD1_ENST00000415425.1_Missense_Mutation_p.D83Y|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000403028.3_Missense_Mutation_p.D170Y|DTWD1_ENST00000558653.1_Missense_Mutation_p.D170Y	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	170										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		CAAAAATGATGACCCTGACAA	0.348000													19	77					1.56452e-12	1.65096e-12	1	1	0
CDK5R1	8851	broad.mit.edu	37	17	30814799	30814799	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:30814799G>C	ENST00000313401.3	+	2	850	c.161G>C	c.(160-162)aGa>aCa	p.R54T		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	54					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CCTTGGAAGAGAATCGTGGCC	0.557000													24	134					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241663874	241663874	+	Missense_Mutation	SNP	T	T	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:241663874T>A	ENST00000366560.3	-	9	1291	c.1253A>T	c.(1252-1254)cAc>cTc	p.H418L		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	418					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CCTGGCTGAGTGTAACACATT	0.438000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				9	103					0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1249154	1249154	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:1249154G>C	ENST00000540437.1	-	11	1388	c.933C>G	c.(931-933)atC>atG	p.I311M	CPSF3L_ENST00000421495.2_Missense_Mutation_p.I47M|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.I276M|CPSF3L_ENST00000419704.1_Missense_Mutation_p.I204M|CPSF3L_ENST00000435064.1_Missense_Mutation_p.I305M|CPSF3L_ENST00000450926.2_Missense_Mutation_p.I283M|CPSF3L_ENST00000411962.1_Missense_Mutation_p.I207M	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	305						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CGAAGGCCTTGATGTGCTTGA	0.587000													41	97					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382895	68382895	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:68382895G>C	ENST00000361478.1	-	2	564	c.187C>G	c.(187-189)Caa>Gaa	p.Q63E	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374583.1_Missense_Mutation_p.Q63E|PJA1_ENST00000374571.4_Missense_Mutation_p.Q8E|PJA1_ENST00000374584.3_Missense_Mutation_p.Q63E	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	63							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTGGTGGTTTGACTGGGGGCT	0.527000													113	70					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64738854	64738854	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:64738854G>A	ENST00000413366.3	+	13	1526	c.1500G>A	c.(1498-1500)ggG>ggA	p.G500G		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	500	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CCTTCTGTGGGACTCCAGATT	0.483000													24	77					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55329809	55329809	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:55329809C>G	ENST00000536015.1	-	21	2443	c.2324G>C	c.(2323-2325)aGa>aCa	p.R775T	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R775T|RP11-35G9.3_ENST00000591854.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	775					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GACGCCACCTCTATTCCTCTG	0.458000													36	71					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23837401	23837401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:23837401G>A	ENST00000359788.4	-	4	502	c.334C>T	c.(334-336)Cag>Tag	p.Q112*	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	112					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CCTTTTAACTGAAAATTATCA	0.343000													34	84					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168864352	168864352	+	Translation_Start_Site	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:168864352G>C	ENST00000468789.1	-	0	111				MECOM_ENST00000464456.1_Intron|MECOM_ENST00000494292.1_Intron	NM_001105078.3	NP_001098548.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus								sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TAGCAACGTAGATAAGCAGCA	0.652000													37	69					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30872128	30872128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:30872128G>T	ENST00000251071.5	-	13	2930	c.2180C>A	c.(2179-2181)tCa>tAa	p.S727*	CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000395805.2_Nonsense_Mutation_p.S692*|CAPRIN2_ENST00000308433.5_Nonsense_Mutation_p.S394*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.S727*	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	727					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGAAGCTAGTGAAGACGGTTG	0.493000													43	146					1.22674e-20	1.32828e-20	1	1	0
PCP2	126006	broad.mit.edu	37	19	7696582	7696582	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:7696582G>A	ENST00000311069.5	-	4	694	c.404C>T	c.(403-405)gCc>gTc	p.A135V	CTD-3214H19.4_ENST00000595866.1_Intron|PCP2_ENST00000598935.1_Missense_Mutation_p.A119V|PET100_ENST00000594797.1_3'UTR	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	135					signal transduction		GTPase activator activity			endometrium(1)|urinary_tract(1)	2						CCCTCAGGGGGCTTGTGTCGG	0.557000													17	33					0	0	1	0	0
KLHL15	80311	broad.mit.edu	37	X	24006434	24006434	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:24006434C>G	ENST00000328046.8	-	4	1674	c.1419G>C	c.(1417-1419)aaG>aaC	p.K473N		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	473										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CGTAATTCATCTTGCTCTTAT	0.463000													56	43					0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031596	56031596	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:56031596G>A	ENST00000309675.2	+	1	953	c.921G>A	c.(919-921)aaG>aaA	p.K307K		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						ACTTGGTGAAGAGGCAGCGCC	0.557000													16	36					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65734347	65734347	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:65734347C>T	ENST00000253247.4	+	14	1754	c.1639C>T	c.(1639-1641)Caa>Taa	p.Q547*	NOL11_ENST00000535137.1_Nonsense_Mutation_p.Q365*	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	547						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGAAATTCTTCAAAATGGCTT	0.353000													38	109					0	0	1	0	0
EN1	2019	broad.mit.edu	37	2	119604365	119604365	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:119604365G>A	ENST00000295206.6	-	1	889	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	127					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCAGCCACCAGAAGCTGCGGT	0.667000													6	79					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235278	3235278	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:3235278G>A	ENST00000217939.6	-	6	6598	c.6444C>T	c.(6442-6444)atC>atT	p.I2148I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2148	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGTGCCCGTGATGCGCGCGT	0.706000													17	10					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502000													4	68					0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36343650	36343650	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:36343650G>C	ENST00000339796.5	-	3	1150	c.305C>G	c.(304-306)tCa>tGa	p.S102*	ETV7_ENST00000538992.1_Intron|ETV7_ENST00000340181.4_Nonsense_Mutation_p.S102*|ETV7_ENST00000373737.4_Nonsense_Mutation_p.S102*|ETV7_ENST00000373738.1_Intron	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN	ets variant 7	102	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TCCCTGACCTGAGCTGGGCGC	0.657000													28	173					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219888038	219888038	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:219888038C>T	ENST00000341552.5	-	16	2794	c.2711G>A	c.(2710-2712)cGc>cAc	p.R904H	CCDC108_ENST00000441968.1_Missense_Mutation_p.R904H|CCDC108_ENST00000453220.1_Missense_Mutation_p.R904H	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	904	MSP.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGAGGGGTTGCGGAAGGTGAA	0.637000													4	23					0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452717	64452717	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:64452717C>T	ENST00000394323.2	-	2	1188	c.688G>A	c.(688-690)Ggc>Agc	p.G230S		NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN		230						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gctcctgggccaatttcttca	0.443000													77	173					0	0	1	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350185	51350185	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:51350185C>T	ENST00000327536.5	-	3	871	c.772G>A	c.(772-774)Gat>Aat	p.D258N	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	258										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AACTCCACATCGGCAAAGTGG	0.527000													26	80					0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86199302	86199302	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:86199302G>C	ENST00000257770.3	+	6	1244	c.1195G>C	c.(1195-1197)Gat>Cat	p.D399H	NT5E_ENST00000369651.3_Missense_Mutation_p.D399H	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	399					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	GTCGCCCATTGATGAACGCAA	0.478000													19	38					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160221788	160221788	+	Missense_Mutation	SNP	T	T	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:160221788T>G	ENST00000610273.1	+	2	199	c.28T>G	c.(28-30)Ttt>Gtt	p.F10V	PNLDC1_ENST00000392167.3_Intron|PNLDC1_ENST00000609334.1_Intron	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACTGCTATTTTTTGCCTTCCT	0.567000													107	172					0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106717458	106717458	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:106717458C>T	ENST00000428048.2	-	6	614	c.557G>A	c.(556-558)tGa>tAa	p.*186*	UXS1_ENST00000409501.3_Intron|UXS1_ENST00000409032.1_Intron|UXS1_ENST00000283148.7_Intron|UXS1_ENST00000540130.1_Intron			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	0					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTCATGGTTTCACAAATGAAC	0.488000													20	55					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	106977137	106977137	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:106977137C>A	ENST00000392842.1	+	1	453	c.39C>A	c.(37-39)tcC>tcA	p.S13S	RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	13					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACATGGATTCCACAGGTTAGT	0.552000													27	74					6.38683e-12	6.72483e-12	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155450328	155450328	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:155450328C>T	ENST00000368346.3	-	3	2972	c.2333G>A	c.(2332-2334)cGa>cAa	p.R778Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.R778Q			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	778					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTTGGCAATCGGCGTTTAAG	0.403000													51	246					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27450029	27450029	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:27450029G>C	ENST00000375946.4	+	4	1074	c.471G>C	c.(469-471)ttG>ttC	p.L157F	MASTL_ENST00000342386.6_Missense_Mutation_p.L157F|MASTL_ENST00000375940.4_Missense_Mutation_p.L157F	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	157	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGGGACTTGAAACCGGACA	0.338000													16	99					0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827141	43827141	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:43827141C>G	ENST00000420765.1	-	31	4215	c.4033G>C	c.(4033-4035)Gag>Cag	p.E1345Q	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.E1320Q|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.E1318Q|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.E1320Q|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.E1321Q|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.E1318Q|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.E1345Q|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.E1341Q	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1345					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						TTGCCAACCTCCACAGAGACC	0.552000													55	133					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282142	71282142	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:71282142C>A	ENST00000335793.3	-	2	892	c.498G>T	c.(496-498)cgG>cgT	p.R166R	CDC42EP4_ENST00000439510.2_Silent_p.R96R|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	166					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CGGCCCCATTCCGACGGGGCA	0.667000													27	76					5.61819e-17	6.04889e-17	1	1	0
C17orf50	146853	broad.mit.edu	37	17	34091461	34091461	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:34091461G>A	ENST00000285023.4	+	3	381	c.349G>A	c.(349-351)Gag>Aag	p.E117K	C17orf50_ENST00000586491.1_Missense_Mutation_p.G87E|C17orf50_ENST00000588628.1_Missense_Mutation_p.G124E	NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50	117													Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGCCTCCCGGAGGAGCCGTG	0.736000													3	7					0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4859608	4859608	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:4859608C>A	ENST00000221957.4	-	4	518	c.342G>T	c.(340-342)acG>acT	p.T114T	PLIN3_ENST00000585479.1_Silent_p.T114T|PLIN3_ENST00000592528.1_Silent_p.T114T	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	114					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TTACCTTCTCCGTGGGCTGCT	0.577000													19	94					3.62473e-10	3.79564e-10	1	1	0
XKR9	389668	broad.mit.edu	37	8	71593403	71593403	+	Missense_Mutation	SNP	A	A	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:71593403A>G	ENST00000408926.3	+	3	644	c.110A>G	c.(109-111)cAg>cGg	p.Q37R	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.Q37R	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	37						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CATGAAGGACAGTATGTTTTT	0.338000													87	231					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55329750	55329750	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:55329750C>T	ENST00000536015.1	-	21	2502	c.2383G>A	c.(2383-2385)Gga>Aga	p.G795R	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.G795R|RP11-35G9.3_ENST00000591854.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	795			Missing (in BRIC1).		ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GCACGGTTTCCACCGGGTGGA	0.433000													39	63					0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8787526	8787526	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:8787526C>T	ENST00000343849.2	+	2	506	c.429C>T	c.(427-429)atC>atT	p.I143I	CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Silent_p.I143I	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	143					cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GCAGCAGCATCAAGGTGGTGC	0.627000													33	86					0	0	1	0	0
MRPS9	64965	broad.mit.edu	37	2	105665629	105665629	+	Splice_Site	SNP	A	A	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:105665629A>C	ENST00000258455.3	+	2	246	c.136A>C	c.(136-138)Ata>Cta	p.I46L		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	46					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTTCTGTTAGATATTAAGGCT	0.289000													8	48					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7829785	7829785	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:7829785C>T	ENST00000379562.4	-	1	159	c.112G>A	c.(112-114)Gag>Aag	p.E38K	KIN_ENST00000535925.1_Missense_Mutation_p.E38K|KIN_ENST00000543003.1_5'UTR	NM_012311.3	NP_036443.1	O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)						DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CCACTCACCTCGTCCCGGCAC	0.647000													34	160					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46977889	46977889	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:46977889C>T	ENST00000371956.4	+	4	887	c.872C>T	c.(871-873)cCg>cTg	p.P291L	DMBX1_ENST00000360032.3_Missense_Mutation_p.P286L	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	291					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTAGGGGGTCCGGCCCCTGCT	0.657000													15	64					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3293098	3293098	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:3293098C>T	ENST00000382004.3	-	7	1021	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	RFX3_ENST00000302303.1_Missense_Mutation_p.R237Q|RFX3_ENST00000358730.2_Missense_Mutation_p.R237Q	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	237					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TCTCCTGGTTCGTAGCCCCAT	0.363000													19	64					0	0	1	0	0
HACL1	26061	broad.mit.edu	37	3	15613211	15613211	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:15613211C>T	ENST00000321169.5	-	12	1426	c.1059G>A	c.(1057-1059)ctG>ctA	p.L353L	HACL1_ENST00000435217.2_Silent_p.L112L|HACL1_ENST00000457447.2_Intron|HACL1_ENST00000451445.2_Silent_p.L271L|HACL1_ENST00000456194.2_Silent_p.L326L	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	353					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						TTTTTTCTCTCAGAGTTTTCC	0.403000													35	129					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39041020	39041020	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:39041020C>T	ENST00000295373.6	-	21	3750	c.3624G>A	c.(3622-3624)gaG>gaA	p.E1208E		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1208							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GCTTGGGGTTCTCAGCATTTG	0.363000													33	72					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61689438	61689438	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:61689438G>A	ENST00000577390.1	-	11	2796	c.1842C>T	c.(1840-1842)gtC>gtT	p.V614V	CDH8_ENST00000299345.6_Silent_p.V614V|CDH8_ENST00000577730.1_Silent_p.V614V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	614	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAATTGGAAGGACATAAGCTT	0.483000													32	76					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063489	170063489	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:170063489G>A	ENST00000263816.3	-	39	7026	c.6741C>T	c.(6739-6741)taC>taT	p.Y2247Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2247					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCCAATAAACGTAGCCATCAC	0.453000													5	201					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51143466	51143466	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:51143466C>T	ENST00000414786.2	+	16	2156	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	SHANK3_ENST00000262795.3_Silent_p.L673L|SHANK3_ENST00000445220.2_Silent_p.L658L			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	673										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCAACCGCCTCGTCATGAAGG	0.617000													51	82					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18053751	18053751	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:18053751G>C	ENST00000205890.5	+	36	7559	c.7221G>C	c.(7219-7221)gaG>gaC	p.E2407D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2407	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGACCTGGAGAAGCCAACAG	0.602000													25	35					0	0	1	0	0
TRIM16	10626	broad.mit.edu	37	17	15532044	15532044	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:15532044G>C	ENST00000578237.1	-	11	2435	c.1580C>G	c.(1579-1581)tCa>tGa	p.S527*	TRIM16_ENST00000416464.2_Nonsense_Mutation_p.S397*|TRIM16_ENST00000577886.1_Nonsense_Mutation_p.S311*|TRIM16_ENST00000336708.7_Nonsense_Mutation_p.S527*|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000579219.1_3'UTR					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GACTGGTTCTGAAAATTTGCA	0.512000													25	48					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79566551	79566551	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:79566551C>T	ENST00000372391.2	-	26	4937	c.4932G>A	c.(4930-4932)caG>caA	p.Q1644Q	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.Q1304Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1644	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTGGATCTTCTGGGCATTCT	0.607000													62	118					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58372085	58372085	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:58372085C>G	ENST00000300896.4	-	4	564	c.370G>C	c.(370-372)Gat>Cat	p.D124H	USP32_ENST00000393003.3_Missense_Mutation_p.D124H	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	124	EF-hand 1.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			ACTTTACCATCCACCACGTGG	0.338000													15	53					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74592201	74592201	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:74592201G>C	ENST00000253159.8	+	8	1309	c.1111G>C	c.(1111-1113)Gag>Cag	p.E371Q	ZNF236_ENST00000320610.9_Missense_Mutation_p.E373Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	371					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGCGCCGGTGGAGTCGGGGCA	0.662000													16	51					0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67171804	67171804	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:67171804G>T	ENST00000312390.5	+	2	160	c.131G>T	c.(130-132)gGg>gTg	p.G44V	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.G44V|TBC1D10C_ENST00000526387.1_Missense_Mutation_p.G44V	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	44						intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGATTCATTGGGGGCAGCTCA	0.662000													23	53					3.6726e-16	3.9497e-16	1	1	0
DHX8	1659	broad.mit.edu	37	17	41569645	41569645	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:41569645G>C	ENST00000262415.3	+	5	560	c.488G>C	c.(487-489)aGa>aCa	p.R163T	DHX8_ENST00000540306.1_Missense_Mutation_p.R163T	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	163						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.R163K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GAGAAGCAAAGAGATGCTGAA	0.468000													11	39					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749457	79749457	+	Missense_Mutation	SNP	A	A	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:79749457A>G	ENST00000305428.3	+	2	1043	c.968A>G	c.(967-969)aAa>aGa	p.K323R		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	323						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GTTCCTGACAAAAGGCGAGCA	0.517000													84	201					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071011	9071011	+	Missense_Mutation	SNP	T	T	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:9071011T>C	ENST00000397910.4	-	3	16638	c.16435A>G	c.(16435-16437)Aca>Gca	p.T5479A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5481	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGGCTCTGTTTGAATTTGG	0.493000													28	74					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136004549	136004549	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:136004549G>C	ENST00000393157.3	-	1	239	c.157C>G	c.(157-159)Ctg>Gtg	p.L53V	RALGDS_ENST00000393160.3_Intron|RALGDS_ENST00000542690.1_Intron|RALGDS_ENST00000372062.3_Intron	NM_001271775.1	NP_001258704.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	57					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGTGCTGGCAGAGGTGCCAGC	0.677000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								10	23					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68383030	68383030	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:68383030G>A	ENST00000361478.1	-	2	429	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	PJA1_ENST00000477231.1_Intron|PJA1_ENST00000374583.1_Nonsense_Mutation_p.Q18*|PJA1_ENST00000374571.4_Intron|PJA1_ENST00000374584.3_Nonsense_Mutation_p.Q18*	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	18							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GTATTGGACTGATACCCTCCT	0.532000													51	39					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41019382	41019382	+	RNA	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:41019382G>C	ENST00000585538.1	+	0	221					NR_002773.1																						AAGGAGGTGAGAGGGAATGTA	0.547000													13	35					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6338302	6338302	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:6338302G>A	ENST00000344683.5	+	11	2117	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	681	BRCT 2.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AGACGTCTGTGAGACCACGAC	0.478000													65	91					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26595968	26595968	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:26595968G>A	ENST00000252992.4	+	9	1643	c.1512G>A	c.(1510-1512)ttG>ttA	p.L504L	CEP85_ENST00000469609.1_3'UTR|CEP85_ENST00000451429.2_Silent_p.L453L	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	504						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						ATTCTGAGTTGAAGAGCACAG	0.458000													28	51					0	0	1	0	0
HPCAL1	3241	broad.mit.edu	37	2	10560022	10560022	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:10560022G>A	ENST00000381765.3	+	4	665	c.139G>A	c.(139-141)Gag>Aag	p.E47K	HPCAL1_ENST00000307845.3_Missense_Mutation_p.E47K	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	47	EF-hand 1.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GACCGTGGACGAGTTCAAGAA	0.617000													21	59					0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46874529	46874529	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:46874529G>C	ENST00000447340.1	-	2	280	c.227C>G	c.(226-228)tCa>tGa	p.S76*	PRSS42_ENST00000429665.1_Nonsense_Mutation_p.S180*			Q7Z5A4	PRS42_HUMAN	protease, serine, 42	180					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CTGGATGTTTGAGGTAAAATT	0.498000													27	117					0	0	1	0	0
C14orf105	55195	broad.mit.edu	37	14	57938268	57938268	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:57938268C>T	ENST00000216445.3	-	6	832	c.696G>A	c.(694-696)gtG>gtA	p.V232V	C14orf105_ENST00000534126.1_Silent_p.V231V|C14orf105_ENST00000422976.2_Silent_p.V272V	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	232										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						AGTAGTTATTCACTGCTTGAT	0.353000													13	17					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60743624	60743624	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:60743624C>T	ENST00000303375.5	+	3	1092	c.690C>T	c.(688-690)atC>atT	p.I230I		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	230	Fibronectin type-II.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TCTGCCCCATCAAGAGTGAGA	0.687000													8	18					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899946	4899946	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:4899946G>T	ENST00000404991.1	-	1	1679	c.1493C>A	c.(1492-1494)cCt>cAt	p.P498H	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	498					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CACATGATGAGGCAGCAGCTG	0.413000													18	49					5.03518e-11	5.28418e-11	1	1	0
C8orf76	84933	broad.mit.edu	37	8	124243718	124243718	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:124243718G>C	ENST00000276704.4	-	4	688	c.637C>G	c.(637-639)Ctt>Gtt	p.L213V	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.L181V	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	213							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAACACAAAAGACAGTCTTTT	0.408000													41	113					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136622646	136622646	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:136622646C>G	ENST00000264156.2	-	7	1075	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	339					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TGACTCATCTCAAACACTTTC	0.388000													29	71					0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59481830	59481830	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:59481830G>A	ENST00000240328.3	+	4	1140	c.859G>A	c.(859-861)Gac>Aac	p.D287N	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	287					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						GGGCTTCCGGGACACCGGGAA	0.672000													11	29					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166987083	166987083	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:166987083C>G	ENST00000367872.4	+	10	1172	c.928C>G	c.(928-930)Ctg>Gtg	p.L310V	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.L279V	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	310					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CAGTAATTCTCTGGCCACTCT	0.348000													42	91					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127724865	127724865	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:127724865C>G	ENST00000368679.4	-	21	2697	c.2388G>C	c.(2386-2388)caG>caC	p.Q796H		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	796					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGTCAACATTCTGACACTGCA	0.507000													40	93					0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118948788	118948788	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:118948788C>T	ENST00000467604.1	-	3	550	c.159G>A	c.(157-159)aaG>aaA	p.K53K	B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000471675.1_Silent_p.K6K|B4GALT4_ENST00000393765.2_Silent_p.K53K|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Silent_p.K53K|B4GALT4_ENST00000483209.1_Silent_p.K53K			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	53					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	AAATGAGGGTCTTATGGAAAT	0.463000													31	87					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75101285	75101285	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:75101285C>G	ENST00000401621.2	-	7	784	c.664G>C	c.(664-666)Gaa>Caa	p.E222Q	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.E222Q|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000310715.3_Missense_Mutation_p.E222Q|TTC18_ENST00000340329.3_Intron			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	222							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GGAACAGGTTCCCTTTCCCCT	0.423000													12	77					0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55372418	55372418	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:55372418G>A	ENST00000297316.4	+	2	1312	c.1108G>A	c.(1108-1110)Gtg>Atg	p.V370M		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	370	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TCTGCACTTCGTGTGCAAGCC	0.662000													19	35					0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5105266	5105266	+	Silent	SNP	T	T	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:5105266T>C	ENST00000315997.5	-	6	1050	c.849A>G	c.(847-849)gaA>gaG	p.E283E	C16orf89_ENST00000472572.3_Silent_p.E283E|C16orf89_ENST00000350219.4_Silent_p.E321E|C16orf89_ENST00000474471.3_Silent_p.E315E|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Silent_p.E321E	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	283						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CGAAGCATCCTTCCTGCTGTT	0.602000													6	24					0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21110004	21110004	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:21110004G>A	ENST00000269221.3	+	17	1617	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	C18orf8_ENST00000591367.1_3'UTR|C18orf8_ENST00000590868.1_Missense_Mutation_p.E455K	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	503	Mic1.									endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTACCTACATGAACTTGTTAT	0.433000													79	435					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52901968	52901968	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:52901968C>G	ENST00000261844.7	-	6	1295	c.1143G>C	c.(1141-1143)ttG>ttC	p.L381F	FAM214A_ENST00000546305.2_Missense_Mutation_p.L388F	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	381																	CACAATGAATCAAATGTTGGG	0.418000													31	100					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801764	67801764	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:67801764G>C	ENST00000544246.1	-	2	1500	c.809C>G	c.(808-810)tCt>tGt	p.S270C	PCDH9_ENST00000377861.3_Missense_Mutation_p.S270C|PCDH9_ENST00000456367.1_Missense_Mutation_p.S270C|PCDH9_ENST00000377865.2_Missense_Mutation_p.S270C|PCDH9_ENST00000328454.5_Missense_Mutation_p.S270C	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	270	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGAATTACAGAGGTACCTAC	0.468000													23	73					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60588018	60588018	+	Splice_Site	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:60588018G>C	ENST00000406854.1	+	8	2600		c.e8+1		PCNXL4_ENST00000535349.1_Splice_Site|PCNXL4_ENST00000406949.1_Splice_Site|PCNXL4_ENST00000317623.4_Splice_Site|PCNXL4_ENST00000404681.2_Splice_Site					pecanex-like 4 (Drosophila)																		TAACATTAAGGTCAGTGTGCA	0.338000													45	72					0	0	1	0	0
NINJ2	4815	broad.mit.edu	37	12	675215	675215	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:675215C>T	ENST00000305108.4	-	2	581	c.301G>A	c.(301-303)Gag>Aag	p.E101K	NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000433832.2_Missense_Mutation_p.E19K|NINJ2_ENST00000542920.1_Missense_Mutation_p.E19K|NINJ2_ENST00000397265.3_Missense_Mutation_p.E48K	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	55					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			GGTCCCTGCTCCAGCACCGCC	0.597000													23	56					0	0	1	0	0
FSD2	123722	broad.mit.edu	37	15	83455358	83455358	+	Splice_Site	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:83455358C>T	ENST00000334574.8	-	3	821	c.640G>A	c.(640-642)Gat>Aat	p.D214N	FSD2_ENST00000541889.1_Splice_Site_p.D214N			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	214										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TGAATTTCATCCTATCCAACA	0.358000													6	31					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57839287	57839287	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:57839287G>A	ENST00000321545.4	+	4	802	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AATGAGTTCTGAACGTGATGG	0.458000													26	98					0	0	1	0	0
RIPK2	8767	broad.mit.edu	37	8	90777671	90777671	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:90777671C>T	ENST00000220751.4	+	3	744	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	RIPK2_ENST00000540020.1_Missense_Mutation_p.H7Y	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	144	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TCCTTTACTTCATCATGACTT	0.338000													28	79					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72513661	72513661	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:72513661G>A	ENST00000373208.1	+	19	2844	c.2844G>A	c.(2842-2844)aaG>aaA	p.K948K	ADAMTS14_ENST00000373207.1_Silent_p.K945K	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	945	TSP type-1 3.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GAACCCACAAGGTCATGCCGG	0.701000													8	10					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158534274	158534274	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:158534274G>A	ENST00000251527.5	-	17	2254	c.2189C>T	c.(2188-2190)tCg>tTg	p.S730L	ESYT2_ENST00000435514.2_Missense_Mutation_p.S165L	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	758						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CGAGATGTCCGAGGCGATGCT	0.637000													33	76					0	0	1	0	0
MIR31HG	554202	broad.mit.edu	37	9	21455894	21455894	+	RNA	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:21455894G>T	ENST00000304425.3	-	0	491					NR_027054.1																						GTGGGTGATTGAGGGCTCTAC	0.507000													3	7					0.004672	0.00471645	1	1	0
RGS9BP	388531	broad.mit.edu	37	19	33167865	33167865	+	Silent	SNP	G	G	A	rs150936907	by1000genomes	TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:33167865G>A	ENST00000334176.3	+	1	1553	c.696G>A	c.(694-696)gcG>gcA	p.A232A		NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	232					negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					TGTGCGTGGCGAAGCTGAGCT	0.706000													7	28					0	0	1	0	0
KCTD20	222658	broad.mit.edu	37	6	36446932	36446932	+	Missense_Mutation	SNP	C	C	G	rs139489273		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:36446932C>G	ENST00000373731.2	+	4	860	c.469C>G	c.(469-471)Cgg>Ggg	p.R157G	KCTD20_ENST00000536244.1_Missense_Mutation_p.R12G|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_5'UTR	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	157	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CAACTTCACTCGGCCCAATGA	0.433000													27	74					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161216964	161216964	+	Missense_Mutation	SNP	A	A	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:161216964A>G	ENST00000327928.4	+	2	370	c.370A>G	c.(370-372)Aaa>Gaa	p.K124E		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	124	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCTAGGTCCTAAAGGAGAGGC	0.393000													8	23					0	0	1	0	0
CA5A	763	broad.mit.edu	37	16	87921874	87921874	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:87921874G>A	ENST00000309893.2	-	7	844	c.779C>T	c.(778-780)tCt>tTt	p.S260F		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	260					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		ACGAAATGCAGAGAGCTGGAA	0.547000													12	33					0	0	1	0	0
MRGBP	55257	broad.mit.edu	37	20	61428024	61428024	+	Splice_Site	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:61428024G>A	ENST00000370487.3	+	1	219		c.e1+1			NM_018270.4	NP_060740.1			MRG/MORF4L binding protein																		AAGCCCGTCGGTGAGCGCCCA	0.791000													8	1					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123046497	123046497	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:123046497C>T	ENST00000333479.7	+	19	1695	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	KNTC1_ENST00000450485.2_Silent_p.L469L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	506					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AAACTGCTCTCATTTATTCTG	0.289000													25	75					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52903803	52903803	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:52903803C>T	ENST00000261844.7	-	4	525	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	FAM214A_ENST00000546305.2_Missense_Mutation_p.E132K	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	125																	ATCCATCTTTCTAATAATAAT	0.388000													41	94					0	0	1	0	0
SLC35A4	113829	broad.mit.edu	37	5	139946757	139946757	+	Translation_Start_Site	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:139946757G>C	ENST00000514199.1	+	2	1689	c.3G>C	c.(1-3)atG>atC	p.M1I	SLC35A4_ENST00000323146.3_Start_Codon_SNP_p.M1I|SLC35A4_ENST00000508770.1_3'UTR|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	1						Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTGGGTATGAGTGTAGAGG	0.602000													61	140					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50475075	50475075	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:50475075G>A	ENST00000267842.5	+	1	683	c.451G>A	c.(451-453)Ggg>Agg	p.G151R	SLC27A2_ENST00000380902.4_Missense_Mutation_p.G151R	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	151					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CCAGTGCTGCGGGGCGAAGGT	0.667000													107	244					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160326404	160326404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:160326404C>T	ENST00000368063.1	+	16	1874	c.1594C>T	c.(1594-1596)Caa>Taa	p.Q532*	NCSTN_ENST00000392212.4_Nonsense_Mutation_p.Q532*|NCSTN_ENST00000368065.4_Nonsense_Mutation_p.Q294*|NCSTN_ENST00000294785.5_Nonsense_Mutation_p.Q552*|NCSTN_ENST00000535857.1_Nonsense_Mutation_p.Q414*			Q92542	NICA_HUMAN	nicastrin	552					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGGGCCTCTTCAACATTACAT	0.517000													105	206					0	0	1	0	0
CIDEB	27141	broad.mit.edu	37	14	24776674	24776674	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:24776674G>A	ENST00000336557.5	-	5	1391	c.89C>T	c.(88-90)tCa>tTa	p.S30L	CIDEB_ENST00000554411.1_Missense_Mutation_p.S30L|NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000258807.5_Missense_Mutation_p.S30L			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	30					apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		TGGTGGAGCTGAGGTCCAGAC	0.562000													13	108					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038409	75038409	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:75038409G>A	ENST00000326665.5	-	14	3203	c.2985C>T	c.(2983-2985)agC>agT	p.S995S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	995	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGTGAAGGGGCTCAAGCGTG	0.532000													25	60					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106091255	106091255	+	RNA	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:106091255C>T	ENST00000390543.2	-	0	638																											AGATGGTTTTCTCGATGGAGG	0.622000													180	495					0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774946	14774946	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:14774946C>G	ENST00000295092.2	+	2	1131	c.843C>G	c.(841-843)ctC>ctG	p.L281L	FAM84A_ENST00000331243.4_Silent_p.L281L	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	281										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			TGCGAGTGCTCCAGGAGCTCG	0.687000													20	33					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56679300	56679300	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:56679300C>G	ENST00000389934.3	-	13	1662	c.1545G>C	c.(1543-1545)caG>caC	p.Q515H	TEX14_ENST00000349033.5_Missense_Mutation_p.Q515H|TEX14_ENST00000240361.8_Missense_Mutation_p.Q521H	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	521	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTGAGTTCTCTGGGCTCCAG	0.468000													37	72					0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107288384	107288384	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:107288384C>G	ENST00000415430.3	+	1	185	c.24C>G	c.(22-24)gtC>gtG	p.V8V	VSIG1_ENST00000217957.5_Silent_p.V8V	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	8						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TTTGGAAGGTCTTTCTGATCC	0.423000													6	4					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59381909	59381909	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:59381909C>G	ENST00000348370.4	+	11	3027	c.2594C>G	c.(2593-2595)tCa>tGa	p.S865*	RNF111_ENST00000561186.1_Nonsense_Mutation_p.S874*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.S874*|RNF111_ENST00000557998.1_Nonsense_Mutation_p.S865*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.S874*	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	865					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TACATTTCATCAGGATTGGAT	0.348000													64	181					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67147901	67147901	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:67147901C>T	ENST00000371037.4	+	15	1241	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	SGIP1_ENST00000237247.6_Silent_p.F392F|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	388	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCAGACCTTCATTAAAGATG	0.517000													58	154					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11072913	11072913	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:11072913G>C	ENST00000287766.4	+	13	1795	c.1374G>C	c.(1372-1374)atG>atC	p.M458I	SLC6A1_ENST00000536032.1_Missense_Mutation_p.M280I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	458					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CCAGTGGCATGAGCCTGCTGT	0.473000													89	240					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99338565	99338565	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:99338565C>G	ENST00000408927.3	+	9	1068	c.955C>G	c.(955-957)Caa>Gaa	p.Q319E	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.Q320E|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.Q270E|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.Q271E|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.Q320E|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.Q228E	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	319							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TAGTGTATTTCAAAGGGTACT	0.383000			T	NUP98	T-ALL								18	45					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793343	140793343	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:140793343G>C	ENST00000398610.2	+	1	601	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTACTGGAGCACTCCCT	0.592000													18	56					0	0	1	0	0
SELT	51714	broad.mit.edu	37	3	150321170	150321170	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:150321170C>G	ENST00000471696.1	+	1	96	c.21C>G	c.(19-21)ctC>ctG	p.L7L	SELT_ENST00000480740.1_Intron|SELT_ENST00000485923.1_5'UTR|SELT_ENST00000477889.1_5'UTR	NM_016275.3	NP_057359.2	P62341	SELT_HUMAN		7					cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGCTGCTTCTCCTAGTGGCGG	0.642000													13	33					0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105242078	105242078	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:105242078C>T	ENST00000554581.1	-	4	1826	c.346G>A	c.(346-348)Gag>Aag	p.E116K	AKT1_ENST00000349310.3_Missense_Mutation_p.E116K|AKT1_ENST00000544168.1_Missense_Mutation_p.E54K|AKT1_ENST00000402615.2_Missense_Mutation_p.E116K|AKT1_ENST00000407796.2_Missense_Mutation_p.E116K|AKT1_ENST00000555528.1_Missense_Mutation_p.E116K|AKT1_ENST00000554848.1_Missense_Mutation_p.E116K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	116					activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TCCATCTCCTCCTCCTCCTGC	0.627000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								50	45					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46281677	46281677	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:46281677C>G	ENST00000372004.3	+	22	4328	c.4112C>G	c.(4111-4113)tCc>tGc	p.S1371C	NCOA3_ENST00000371998.3_Missense_Mutation_p.S1375C|NCOA3_ENST00000341724.6_Missense_Mutation_p.S1301C|NCOA3_ENST00000371997.3_Missense_Mutation_p.S1366C	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1375					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACTTACAGCTCCTTTTCCCAG	0.443000													23	167					0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16143343	16143343	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:16143343G>A	ENST00000349606.4	+	3	518	c.14G>A	c.(13-15)gGc>gAc	p.G5D	MYLIP_ENST00000356840.3_Missense_Mutation_p.G186D			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	186	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GAAAACTATGGCATAGAATGG	0.463000													21	107					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818298	200818298	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:200818298C>T	ENST00000358823.2	+	11	2671	c.2401C>T	c.(2401-2403)Cta>Tta	p.L801L	CAMSAP2_ENST00000413307.2_Silent_p.L785L|CAMSAP2_ENST00000236925.4_Silent_p.L812L	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	812						cytoplasm|microtubule	protein binding										GATATCTCCTCTACGAGAGGA	0.418000													27	123					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31939893	31939893	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:31939893C>T	ENST00000375331.2	+	1	286	c.120C>T	c.(118-120)acC>acT	p.T40T	DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Silent_p.T40T|DXO_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	40						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						ACGTGGCCACCGGCGCCCCTC	0.697000													20	120					0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36523815	36523815	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:36523815G>A	ENST00000577233.1	+	6	1242	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	SOCS7_ENST00000331159.5_Silent_p.L380L	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	414	Mediates interaction with SORBS3.|SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					AGATGAAGCTGAAAGGGAAAC	0.468000													31	59					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65748662	65748662	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:65748662C>G	ENST00000341861.5	-	16	3647	c.2067G>C	c.(2065-2067)ttG>ttC	p.L689F	DPP8_ENST00000321147.6_Missense_Mutation_p.L689F|DPP8_ENST00000358939.4_Intron|DPP8_ENST00000339244.5_Missense_Mutation_p.L516F|DPP8_ENST00000559233.1_Missense_Mutation_p.L689F|DPP8_ENST00000300141.6_Missense_Mutation_p.L673F|DPP8_ENST00000321118.7_Intron	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	689					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTAGGGTATTCAAGCGGAAAT	0.403000													41	121					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66260358	66260358	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:66260358C>G	ENST00000532677.1	+	10	1618	c.1217C>G	c.(1216-1218)cCt>cGt	p.P406R	DPP3_ENST00000360510.2_Missense_Mutation_p.P387R|DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000541961.1_Missense_Mutation_p.P387R|DPP3_ENST00000453114.1_Missense_Mutation_p.P387R|DPP3_ENST00000531863.1_Missense_Mutation_p.P407R|DPP3_ENST00000530165.1_Missense_Mutation_p.P357R	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	387					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCCGGCATCCCTGCCGGCATC	0.612000													57	137					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1818252	1818252	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:1818252C>T	ENST00000250894.4	+	30	3769	c.3612C>T	c.(3610-3612)atC>atT	p.I1204I	MAPK8IP3_ENST00000356010.5_Silent_p.I1198I	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1204					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGGGCATCATCCACGTGTATG	0.647000													87	185					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13208698	13208698	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:13208698C>T	ENST00000197268.8	+	2	371	c.251C>T	c.(250-252)tCa>tTa	p.S84L		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	84						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GGCTACCCCTCAGAACCCCTT	0.577000													22	129					0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39218589	39218589	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:39218589C>T	ENST00000252699.2	+	19	2417	c.2341C>T	c.(2341-2343)Cat>Tat	p.H781Y	ACTN4_ENST00000424234.2_Missense_Mutation_p.H391Y|ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Missense_Mutation_p.H562Y	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	781	EF-hand 1.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGGCAGGATCATGGCGGGGC	0.697000													15	47					0	0	1	0	0
ADSS	159	broad.mit.edu	37	1	244587259	244587259	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:244587259C>G	ENST00000366535.3	-	6	893	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	193					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	AGTTACCTCTCAGAGAAGCCA	0.398000													10	31					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52902039	52902039	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:52902039C>T	ENST00000261844.7	-	6	1224	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	FAM214A_ENST00000546305.2_Missense_Mutation_p.E365K	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	358																	GGGTTAGTCTCACCAGCTGAC	0.383000													21	64					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1257843	1257843	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:1257843G>C	ENST00000348261.5	+	15	3385	c.3137G>C	c.(3136-3138)aGa>aCa	p.R1046T	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1046T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1046T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1046					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CACAAGCTCAGAGAACTCCAG	0.627000													5	16					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41668001	41668001	+	Silent	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr21:41668001G>T	ENST00000400454.1	-	10	2640	c.2163C>A	c.(2161-2163)atC>atA	p.I721I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	721	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTTCCACACGATGGTAGGTA	0.428000													17	71					6.49762e-13	6.86419e-13	1	1	0
RNF149	284996	broad.mit.edu	37	2	101898448	101898448	+	Missense_Mutation	SNP	C	C	G	rs17856945		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:101898448C>G	ENST00000295317.3	-	6	1139	c.1032G>C	c.(1030-1032)ttG>ttC	p.L344F		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	344			L -> F (in dbSNP:rs17856945).			integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						AAGCTAGACTCAAATTTGCAG	0.493000													37	102					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	27018090	27018090	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:27018090C>G	ENST00000311550.5	-	1	131	c.20G>C	c.(19-21)gGa>gCa	p.G7A	GABRB3_ENST00000299267.4_Intron|GABRB3_ENST00000557641.1_Intron|GABRB3_ENST00000541819.2_Intron	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	7					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(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAAAAGCCTTCCTCCCGCAAG	0.786000													5	8					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160327971	160327971	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:160327971C>T	ENST00000368063.1	+	18	2260	c.1980C>T	c.(1978-1980)ctC>ctT	p.L660L	NCSTN_ENST00000392212.4_Silent_p.L660L|NCSTN_ENST00000368065.4_Silent_p.L422L|NCSTN_ENST00000294785.5_Silent_p.L680L|NCSTN_ENST00000535857.1_Silent_p.L542L			Q92542	NICA_HUMAN	nicastrin	680					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGGCATCCTCATCTTCTCCC	0.537000													96	259					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109841883	109841883	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:109841883G>C	ENST00000310903.5	+	7	905	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	MYO1H_ENST00000542883.1_3'UTR|MYO1H_ENST00000431443.2_Missense_Mutation_p.E267Q			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGCTGACCTCGAGGTACGTGC	0.433000													11	21					0	0	1	0	0
ATG4C	84938	broad.mit.edu	37	1	63284712	63284712	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:63284712C>G	ENST00000317868.4	+	5	638	c.431C>G	c.(430-432)tCa>tGa	p.S144*	ATG4C_ENST00000371120.3_Nonsense_Mutation_p.S144*	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	144					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						ATTGAAAATTCAGACTCTGAA	0.348000													15	87					0	0	1	0	0
RPRD1B	58490	broad.mit.edu	37	20	36687836	36687836	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:36687836C>T	ENST00000373433.4	+	5	971	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	190										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						CTGGAAAATGCCGCATCAGGG	0.413000													4	116					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49048117	49048117	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:49048117C>T	ENST00000380950.2	-	20	3515	c.3328G>A	c.(3328-3330)Gac>Aac	p.D1110N	CEP152_ENST00000399334.3_Missense_Mutation_p.D1110N|CEP152_ENST00000325747.5_Missense_Mutation_p.D1017N	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1110					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CATTCTGGGTCAGCGTTTTCT	0.353000													50	142					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52885487	52885487	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:52885487C>T	ENST00000330722.6	-	2	642	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	192	Coil 1A.|Rod.			E -> D (in Ref. 1; AAB60696).	cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTTTGTTTCCAGAACCTTG	0.522000													7	138					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850242	73850242	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:73850242G>A	ENST00000523207.1	+	3	3240	c.2652G>A	c.(2650-2652)aaG>aaA	p.K884K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	884					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAGGGTGCAAGATGGAAAATC	0.468000													51	127					0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75665431	75665431	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:75665431C>G	ENST00000319410.5	-	10	1340	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	KARS_ENST00000302445.3_Missense_Mutation_p.E379Q|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	379					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GCTTGGCCCTCTGGGCCATCT	0.522000													47	124					0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777684	152777684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:152777684G>A	ENST00000368768.1	-	2	321	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	LCE1C_ENST00000607093.1_Nonsense_Mutation_p.Q91*	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	91	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAGAGCTCTGGGGTCTGTGG	0.697000													56	107					0	0	1	0	0
PLAC9	219348	broad.mit.edu	37	10	81901871	81901871	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:81901871C>T	ENST00000372263.3	+	2	140	c.98C>T	c.(97-99)tCa>tTa	p.S33L	PLAC9_ENST00000372270.2_5'UTR|PLAC9_ENST00000372267.2_Missense_Mutation_p.S33L	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	placenta-specific 9	33						extracellular region				kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			CGAGGAGACTCAGCTCAGAGC	0.537000													15	32					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32487656	32487656	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:32487656C>A	ENST00000266088.4	+	11	1437	c.1187C>A	c.(1186-1188)tCc>tAc	p.S396Y	SLC5A1_ENST00000543737.1_Missense_Mutation_p.S269Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	396					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCCCTGACCTCCATCTTCAAC	0.527000													46	119					2.43468e-25	2.65122e-25	1	1	0
LIPF	8513	broad.mit.edu	37	10	90436019	90436019	+	Silent	SNP	T	T	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:90436019T>C	ENST00000394375.3	+	10	1085	c.972T>C	c.(970-972)aaT>aaC	p.N324N	LIPF_ENST00000355843.2_Silent_p.N291N|LIPF_ENST00000608620.1_Silent_p.N281N|LIPF_ENST00000238983.4_Silent_p.N314N	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	314					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		CAGTTCAGAATAGGATGCACT	0.299000													20	30					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204403730	204403730	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:204403730C>T	ENST00000367187.3	-	25	4079	c.3523G>A	c.(3523-3525)Gag>Aag	p.E1175K	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.E1147K	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1175	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATAAAGTTCTCCACAGCCTGG	0.572000													6	22					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44737008	44737008	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:44737008G>C	ENST00000222673.5	+	16	2133	c.2091G>C	c.(2089-2091)aaG>aaC	p.K697N	OGDH_ENST00000447398.1_Missense_Mutation_p.K708N|OGDH_ENST00000449767.1_Missense_Mutation_p.K693N|OGDH_ENST00000444676.1_Missense_Mutation_p.K712N|OGDH_ENST00000439616.2_Missense_Mutation_p.K547N|OGDH_ENST00000543843.1_Missense_Mutation_p.K648N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	697					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ATGTGGACAAGAGAACCTGCA	0.542000													26	74					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219674337	219674337	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:219674337C>G	ENST00000258415.4	+	2	720	c.293C>G	c.(292-294)tCc>tGc	p.S98C		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	98					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	ATGTGGATGTCCTACTTAGGG	0.557000													24	113					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90631943	90631943	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:90631943C>T	ENST00000330062.3	-	4	523	c.410G>A	c.(409-411)gGa>gAa	p.G137E	IDH2_ENST00000539790.1_Missense_Mutation_p.G7E|IDH2_ENST00000540499.2_Missense_Mutation_p.G85E|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	137	Substrate binding (By similarity).				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CCGGATAGTTCCATTGGGACT	0.522000			M		GBM								40	107					0	0	1	0	0
MSS51	118490	broad.mit.edu	37	10	75185617	75185617	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:75185617C>T	ENST00000299432.2	-	5	1086	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	MSS51_ENST00000372912.1_Missense_Mutation_p.E341K	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN	MSS51 mitochondrial translational activator	341							zinc ion binding										TGCCCGGTCTCTACTTGCTCC	0.542000													10	60					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34472597	34472597	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:34472597G>C	ENST00000241052.4	+	3	390	c.301G>C	c.(301-303)Gag>Cag	p.E101Q		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	101					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	AAAGGTATTTGAGCATATTGG	0.433000													87	107					0	0	1	0	0
GLO1	2739	broad.mit.edu	37	6	38650627	38650627	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:38650627C>T	ENST00000373365.4	-	4	419	c.333G>A	c.(331-333)gaG>gaA	p.E111E	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	111			E -> A (in dbSNP:rs4746).		anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	AACTCTGGGTCTCATCATCTT	0.368000													14	99					0	0	1	0	0
CDK5R1	8851	broad.mit.edu	37	17	30814992	30814992	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:30814992G>A	ENST00000313401.3	+	2	1043	c.354G>A	c.(352-354)caG>caA	p.Q118Q		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	118					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CGGGTTCCCAGACCGGGGGCT	0.687000													26	155					0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53747051	53747051	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:53747051C>G	ENST00000333952.4	-	4	280	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	ZNF677_ENST00000594681.1_Missense_Mutation_p.E39Q|ZNF677_ENST00000599012.1_Missense_Mutation_p.E39Q|ZNF677_ENST00000598806.1_Missense_Mutation_p.E39Q|ZNF677_ENST00000598513.1_Missense_Mutation_p.E39Q|ZNF677_ENST00000601413.1_Missense_Mutation_p.E39Q|ZNF677_ENST00000601828.1_Missense_Mutation_p.E39Q			Q86XU0	ZN677_HUMAN	zinc finger protein 677	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CTGTAGTTCTCCAACATCACG	0.488000													40	94					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696643	17696643	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:17696643C>T	ENST00000399080.2	-	1	3063	c.3040G>A	c.(3040-3042)Gaa>Aaa	p.E1014K		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1014										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAATCTTTTTCTATCTCCATT	0.358000													15	36					0	0	1	0	0
DKKL1	27120	broad.mit.edu	37	19	49868778	49868778	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:49868778C>T	ENST00000221498.2	+	3	601	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	66					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		TAACCTGCTTCGGGGCATAGA	0.612000													25	52					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40360112	40360112	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:40360112G>A	ENST00000338305.6	-	3	2482	c.1940C>T	c.(1939-1941)cCg>cTg	p.P647L		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	647						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTGGGGCGCGGGGCGGAGGG	0.706000													5	14					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155018613	155018613	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:155018613C>G	ENST00000295542.1	+	12	1381	c.1285C>G	c.(1285-1287)Ctg>Gtg	p.L429V	DCST1_ENST00000392480.1_Missense_Mutation_p.L429V|DCST1_ENST00000368419.2_Missense_Mutation_p.L429V|DCST1_ENST00000423025.2_Missense_Mutation_p.L404V	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	429						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAAACGGACTCTGCTGCCACT	0.562000													16	78					0	0	1	0	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158469	26158469	+	Silent	SNP	G	G	A	rs145666937	byFrequency	TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:26158469G>A	ENST00000289316.2	+	1	96	c.72G>A	c.(70-72)aaG>aaA	p.K24K	HIST1H2BD_ENST00000377777.4_Silent_p.K24K	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	24					nucleosome assembly	nucleosome|nucleus	DNA binding	p.K24K(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						AGGCTCAGAAGAAGGACGGGA	0.537000													77	122					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43038211	43038211	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:43038211G>A	ENST00000267890.6	-	15	3625	c.3517C>T	c.(3517-3519)Cgg>Tgg	p.R1173W		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1173	Ser-rich.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGGTGGGGCCGTCCAGCCCTA	0.602000													5	132					0	0	1	0	0
FZD5	7855	broad.mit.edu	37	2	208633144	208633144	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:208633144G>A	ENST00000295417.3	-	2	873	c.320C>T	c.(319-321)tCg>tTg	p.S107L		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	107	FZ.				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CTCGCACACCGAGCGGCAGGG	0.687000													16	22					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344920	20344920	+	Missense_Mutation	SNP	C	C	T	rs150453720	by1000genomes	TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:20344920C>T	ENST00000298642.2	+	1	530	c.494C>T	c.(493-495)aCg>aTg	p.T165M		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGCCCTCACGTTACCATTC	0.473000													55	467					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75899525	75899525	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:75899525G>T	ENST00000322507.8	-	6	710	c.401C>A	c.(400-402)tCt>tAt	p.S134Y	COL12A1_ENST00000416123.2_Missense_Mutation_p.S134Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.S134Y|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	134					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGCACTGACAGAGCATTCTGA	0.348000													28	61					1.39806e-14	1.49512e-14	1	1	0
OPA1	4976	broad.mit.edu	37	3	193349413	193349413	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:193349413G>C	ENST00000361510.2	+	8	1036	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	OPA1_ENST00000361150.2_Missense_Mutation_p.E214Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E231Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E250Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E232Q|OPA1_ENST00000392438.3_Missense_Mutation_p.E213Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	213					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	p.E268*(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTCAGACAAAGAGAAAATTGA	0.284000													33	114					0	0	1	0	0
EME1	146956	broad.mit.edu	37	17	48452913	48452913	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:48452913C>G	ENST00000393271.2	+	2	426	c.344C>G	c.(343-345)tCt>tGt	p.S115C	EME1_ENST00000338165.4_Missense_Mutation_p.S115C|EME1_ENST00000511648.2_Missense_Mutation_p.S115C	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	115					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CCTGAGGACTCTAGCTCCCCA	0.428000								Direct reversal of damage;Homologous recombination					52	128					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75798080	75798080	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:75798080C>G	ENST00000306726.2	-	7	1416	c.904G>C	c.(904-906)Gga>Cga	p.G302R	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	302						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCATAGATTCCTTGCTTTTGC	0.483000													39	122					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51169635	51169635	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:51169635G>A	ENST00000293441.1	-	22	5600	c.5582C>T	c.(5581-5583)tCa>tTa	p.S1861L	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.S1869L|SHANK1_ENST00000391813.1_Missense_Mutation_p.S1248L|SHANK1_ENST00000359082.3_Missense_Mutation_p.S1852L	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1861					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGCCAAGGCTGAGGCCTGAGG	0.697000													9	37					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43814957	43814957	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:43814957C>G	ENST00000372470.3	+	10	1534	c.1492C>G	c.(1492-1494)Ctg>Gtg	p.L498V	MPL_ENST00000413998.2_Missense_Mutation_p.L498V	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	498					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	p.A497_L498insLVIA(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGTGACCGCTCTGCATCTAGT	0.662000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						32	222					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79031743	79031743	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:79031743G>C	ENST00000321300.6	+	3	286	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	BAIAP2_ENST00000575712.1_Missense_Mutation_p.E65Q|BAIAP2_ENST00000392411.3_Intron|BAIAP2_ENST00000435091.3_Missense_Mutation_p.E65Q|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575245.1_Missense_Mutation_p.E98Q|BAIAP2_ENST00000321280.7_Missense_Mutation_p.E65Q|BAIAP2_ENST00000428708.2_Missense_Mutation_p.E65Q	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	65	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCTGGCCAGCGAGAGCCAGGG	0.622000													7	38					0	0	1	0	0
PSKH1	5681	broad.mit.edu	37	16	67961379	67961379	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:67961379C>G	ENST00000291041.5	+	3	1279	c.1109C>G	c.(1108-1110)tCc>tGc	p.S370C		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	370						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		CTGCACCGCTCCATATCCCAG	0.602000													41	98					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135330246	135330246	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:135330246G>C	ENST00000285968.6	+	41	5740	c.5714G>C	c.(5713-5715)tGg>tCg	p.W1905S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1905					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTTATTCTTTGGCGCCATCTG	0.403000											OREG0018343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	219					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100608842	100608842	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:100608842G>A	ENST00000319509.7	+	7	2221	c.2221G>A	c.(2221-2223)Gac>Aac	p.D741N	RP11-395B7.2_ENST00000420080.1_RNA					mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAACGCCATCGACTGTCACCA	0.637000													19	76					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78347189	78347189	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:78347189C>T	ENST00000255189.3	-	5	694	c.666G>A	c.(664-666)ctG>ctA	p.L222L	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	222					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACCTGGCTTTCAGAGAAGTTA	0.438000													85	241					0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179050062	179050062	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:179050062C>T	ENST00000356731.5	-	1	1608	c.73G>A	c.(73-75)Gat>Aat	p.D25N	HNRNPH1_ENST00000393432.4_Missense_Mutation_p.D25N|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.D25N|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.D25N|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.D25N			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	25	RRM 1.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TGCACTTCATCGGCCGAGCAA	0.647000													28	93					0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176795872	176795872	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:176795872G>T	ENST00000408923.3	+	9	1192	c.1004G>T	c.(1003-1005)cGa>cTa	p.R335L		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	335	Necessary for interaction with RABGEF1 (By similarity).|RBD 1.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTGAGAAACGAGGCCTCTCT	0.582000											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	71					1.05317e-09	1.09562e-09	1	1	0
SLAIN2	57606	broad.mit.edu	37	4	48422432	48422432	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:48422432C>T	ENST00000264313.6	+	7	2069	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	SLAIN2_ENST00000512093.1_Missense_Mutation_p.R384C	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	551						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						ACCAGTGCCTCGCAGCAAACT	0.517000													46	95					0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138187708	138187708	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:138187708C>T	ENST00000389567.4	+	14	1605	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	473	C2 2.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CCAAAAAACTCTCCAGGTTTG	0.468000													105	303					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55179353	55179353	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:55179353G>A	ENST00000391736.1	+	14	1545	c.1230G>A	c.(1228-1230)gtG>gtA	p.V410V	LILRB4_ENST00000270452.2_Silent_p.V410V|LILRB4_ENST00000391733.3_Silent_p.V411V|LILRB4_ENST00000430952.2_Silent_p.V409V|LILRB4_ENST00000391734.3_Silent_p.V357V	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	410						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCAGGATGTGACCTACGCCC	0.637000													52	123					0	0	1	0	0
C18orf32	497661	broad.mit.edu	37	18	47008720	47008720	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:47008720C>T	ENST00000318240.3	-	3	437	c.226G>A	c.(226-228)Gac>Aac	p.D76N	C18orf32_ENST00000582392.1_Missense_Mutation_p.D76N|RPL17-C18orf32_ENST00000584895.1_3'UTR|RPL17-C18orf32_ENST00000332968.6_3'UTR|C18orf32_ENST00000579820.1_Missense_Mutation_p.D76N	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN	chromosome 18 open reading frame 32	76					positive regulation of I-kappaB kinase/NF-kappaB cascade		signal transducer activity			large_intestine(2)|lung(1)	3						TTTCTTTAGTCTTTCTTTTTA	0.328000													35	92					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338650	5338650	+	Missense_Mutation	SNP	A	A	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:5338650A>G	ENST00000396872.3	+	8	1075	c.914A>G	c.(913-915)gAg>gGg	p.E305G	SLC29A4_ENST00000297195.4_Missense_Mutation_p.E305G|SLC29A4_ENST00000406453.3_Missense_Mutation_p.E291G			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCCCCAACGAGTCCCCAAAG	0.692000													5	64					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32168733	32168733	+	Missense_Mutation	SNP	G	G	A	rs138572849		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:32168733G>A	ENST00000375023.3	-	23	4328	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1397					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.P1397L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCGGGATGCCGGGTGGTCAGG	0.632000													10	53					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112171	44112171	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:44112171C>G	ENST00000361807.3	+	5	874	c.680C>G	c.(679-681)tCa>tGa	p.S227*	ZNF485_ENST00000374435.3_Nonsense_Mutation_p.S227*|ZNF485_ENST00000374437.2_Nonsense_Mutation_p.S136*	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGAAAGAACTCAATCCTTTTA	0.403000													15	73					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	35021903	35021903	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:35021903G>C	ENST00000360359.3	+	12	2176	c.2038G>C	c.(2038-2040)Gaa>Caa	p.E680Q	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	680						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCTATTGGAGAAGGGATTGA	0.478000													12	73					0	0	1	0	0
GJB4	127534	broad.mit.edu	37	1	35227098	35227098	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:35227098C>T	ENST00000339480.1	+	2	613	c.243C>T	c.(241-243)ctC>ctT	p.L81L	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	81					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CCCTACAGCTCATCCTGGTCA	0.632000													7	35					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64413516	64413516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:64413516C>T	ENST00000262043.3	+	11	3662	c.3322C>T	c.(3322-3324)Caa>Taa	p.Q1108*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.Q1108*			Q92576	PHF3_HUMAN	PHD finger protein 3	1108					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TACCACTAGTCAACACAGACA	0.373000													24	62					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42583701	42583701	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:42583701C>G	ENST00000381668.5	-	10	1002	c.771G>C	c.(769-771)ttG>ttC	p.L257F	ATP8A1_ENST00000264449.10_Missense_Mutation_p.L257F	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	257					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTGTATTTCTCAACTGAGCTC	0.413000													7	51					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75996938	75996938	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:75996938G>C	ENST00000274364.6	+	34	4702	c.4405G>C	c.(4405-4407)Gaa>Caa	p.E1469Q	IQGAP2_ENST00000396234.3_Missense_Mutation_p.E965Q|IQGAP2_ENST00000502745.1_Missense_Mutation_p.E965Q|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Missense_Mutation_p.E971Q	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1469					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGGAAAAGGAGAACCCAAAGG	0.423000													22	80					0	0	1	0	0
C1QL1	10882	broad.mit.edu	37	17	43037637	43037637	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:43037637G>C	ENST00000253407.3	-	2	718	c.696C>G	c.(694-696)atC>atG	p.I232M		NM_006688.3	NP_006679.1	O75973	C1QRF_HUMAN	complement component 1, q subcomponent-like 1	232	C1q.				locomotory behavior	collagen				lung(1)|prostate(1)	2		Prostate(33;0.155)				CATCCAGCTTGATGAAGACCT	0.597000													62	125					0	0	1	0	0
FABP5P3	220832	broad.mit.edu	37	7	152139960	152139960	+	RNA	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:152139960G>C	ENST00000477993.1	+	0	715					NR_002935.1																						CAAGAAAACTGAAAGATGGGA	0.438000													11	40					0	0	1	0	0
CTDSP1	58190	broad.mit.edu	37	2	219266376	219266376	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:219266376G>A	ENST00000273062.2	+	2	493	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	CTDSP1_ENST00000443891.1_Missense_Mutation_p.A53T|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	53					protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATGGGGAGGCCCTGCCTGC	0.667000													16	64					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31159963	31159963	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:31159963C>G	ENST00000268281.4	-	5	364	c.306G>C	c.(304-306)tcG>tcC	p.S102S	PRSS36_ENST00000418068.2_Silent_p.S102S|PRSS36_ENST00000569305.1_Silent_p.S102S	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	102	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCAGCAGTACCGACCACTCGG	0.706000													39	103					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207813	81207813	+	Missense_Mutation	SNP	T	T	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:81207813T>G	ENST00000312465.7	+	3	1020	c.794T>G	c.(793-795)tTt>tGt	p.F265C	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	265					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGACTCAAGTTTCGCTTTGGA	0.418000													36	61					0	0	1	0	0
SDHD	6392	broad.mit.edu	37	11	111965577	111965577	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:111965577G>A	ENST00000528048.1	+	3	253	c.218G>A	c.(217-219)aGa>aAa	p.R73K	SDHD_ENST00000526592.1_3'UTR|SDHD_ENST00000375549.3_Silent_p.Q121Q|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000528182.1_Missense_Mutation_p.R119K|SDHD_ENST00000528021.1_Intron|SDHD_ENST00000525291.1_Silent_p.Q82Q			O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	0					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	ATGCCTTGCAGAAAGCTGCCA	0.423000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				33	77					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111622	142111622	+	RNA	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:142111622C>T	ENST00000390378.1	-	0	113																											ATCTCAGAGTCACGTGCTGTC	0.527000													55	149					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245490	166245490	+	Missense_Mutation	SNP	A	A	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:166245490A>G	ENST00000357398.3	+	27	5464	c.5174A>G	c.(5173-5175)aAt>aGt	p.N1725S	SCN2A_ENST00000375437.2_Missense_Mutation_p.N1725S|SCN2A_ENST00000283256.6_Missense_Mutation_p.N1725S|SCN2A_ENST00000375427.2_Missense_Mutation_p.N1725S			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1725					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCTATTCTTAATAGTGGACCT	0.458000													54	283					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457744	159457744	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:159457744C>T	ENST00000367066.3	-	10	1642	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Silent_p.P259P|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	437					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAGGTCCACCGGCCTCTTGG	0.607000													67	83					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180685929	180685929	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:180685929G>A	ENST00000357559.4	+	14	1673	c.1289G>A	c.(1288-1290)cGa>cAa	p.R430Q	FXR1_ENST00000445140.2_Missense_Mutation_p.R430Q|FXR1_ENST00000480918.1_Missense_Mutation_p.R417Q|FXR1_ENST00000491062.1_Missense_Mutation_p.R381Q|FXR1_ENST00000468861.1_Missense_Mutation_p.R345Q|FXR1_ENST00000305586.7_Missense_Mutation_p.R345Q	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	430					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GAAGATGATCGAGACAGCCGA	0.537000													33	107					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57095840	57095840	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:57095840C>T	ENST00000278412.2	-	13	1808	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	514	Arg/Lys-rich (basic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCCGCTTCTTCTCATCCCGGT	0.562000													40	103					0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41606503	41606503	+	Splice_Site	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:41606503C>T	ENST00000319349.5	-	12	1528	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K	ETV4_ENST00000586826.1_Splice_Site_p.K133K|ETV4_ENST00000591713.1_Splice_Site_p.K410K|ETV4_ENST00000545954.1_Splice_Site_p.K371K|ETV4_ENST00000538265.1_Splice_Site_p.K371K|ETV4_ENST00000393664.2_Splice_Site_p.K410K|ETV4_ENST00000545089.1_Splice_Site_p.K356K	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	410					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CAGCCCCCACCTTCTGCATGA	0.582000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								93	216					0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98311819	98311819	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:98311819G>A	ENST00000264193.2	-	1	748	c.530C>T	c.(529-531)tCt>tTt	p.S177F		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	177						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCGGTCCACAGAAAAGTTGGC	0.602000													8	26					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													5	91					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73840377	73840377	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:73840377G>A	ENST00000207549.4	-	1	421	c.42C>T	c.(40-42)ttC>ttT	p.F14F	UNC13D_ENST00000412096.2_Silent_p.F14F	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	14					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGCGCAAGAAGGGAGGGC	0.637000									Familial Hemophagocytic Lymphohistiocytosis				18	32					0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83970465	83970465	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:83970465G>A	ENST00000509093.1	+	3	1079	c.301G>A	c.(301-303)Gag>Aag	p.E101K	COPS4_ENST00000264389.2_Missense_Mutation_p.E101K|COPS4_ENST00000511653.1_Missense_Mutation_p.E101K|COPS4_ENST00000503682.1_Missense_Mutation_p.E101K	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	101					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TTCATTTGAGGAGCAGGTAAA	0.353000													24	46					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43258512	43258512	+	Missense_Mutation	SNP	A	A	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:43258512A>G	ENST00000404209.4	-	5	1312	c.1216T>C	c.(1216-1218)Tcc>Ccc	p.S406P	PSG8_ENST00000401467.2_Missense_Mutation_p.S313P|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.S284P|PSG8_ENST00000306511.4_Missense_Mutation_p.S406P	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	406	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATGGATTTGGAGCTTTCCTTG	0.473000													115	620					0	0	1	0	0
GLO1	2739	broad.mit.edu	37	6	38650632	38650632	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:38650632C>T	ENST00000373365.4	-	4	414	c.328G>A	c.(328-330)Gat>Aat	p.D110N	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	110					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TGGGTCTCATCATCTTCAGTG	0.373000													15	100					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15820798	15820798	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:15820798C>T	ENST00000452625.2	-	29	3873	c.3786G>A	c.(3784-3786)aaG>aaA	p.K1262K	MYH11_ENST00000576790.2_Silent_p.K1255K|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_Silent_p.K1262K|MYH11_ENST00000300036.5_Silent_p.K1255K	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1255			Missing (in AAT4).		axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTCCAGCTTCTTCTTCTTAT	0.607000			T	CBFB	AML								112	316					0	0	1	0	0
TMEM143	55260	broad.mit.edu	37	19	48863423	48863423	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:48863423G>C	ENST00000293261.3	-	3	591	c.275C>G	c.(274-276)tCg>tGg	p.S92W	TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000436660.2_Missense_Mutation_p.S92W	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	92						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGCCGGACTCGAGTGGAATTC	0.562000													14	53					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75782611	75782611	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:75782611C>G	ENST00000306726.2	-	8	1512	c.1000G>C	c.(1000-1002)Ggg>Cgg	p.G334R	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	334	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTACATCCCCATAACGGTTT	0.423000													34	105					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54650346	54650346	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:54650346G>C	ENST00000406403.1	+	9	2450	c.847G>C	c.(847-849)Gaa>Caa	p.E283Q	CNOT3_ENST00000358389.3_Missense_Mutation_p.E102Q|CNOT3_ENST00000221232.5_Missense_Mutation_p.E283Q			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	283					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAAAACTCTGAAGATGATAA	0.577000													76	189					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	95055364	95055364	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:95055364G>A	ENST00000377047.4	+	9	2176	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	521						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCCCGCAGTGGATCCCGACCG	0.602000													19	109					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39515359	39515359	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:39515359G>C	ENST00000263881.3	-	20	1701	c.1377C>G	c.(1375-1377)atC>atG	p.I459M	MAP4K3_ENST00000536018.1_Missense_Mutation_p.I12M|MAP4K3_ENST00000437545.1_Missense_Mutation_p.I375M|MAP4K3_ENST00000341681.5_Missense_Mutation_p.I438M	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	459					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GACATCTCTTGATTGTTCCTT	0.438000													58	96					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856469	54856469	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:54856469C>T	ENST00000333896.5	+	13	2544	c.2159C>T	c.(2158-2160)tCg>tTg	p.S720L	SPTBN1_ENST00000356805.4_Missense_Mutation_p.S733L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	733					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGCAGCTCTCGGCCATTCGG	0.572000													22	92					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39588230	39588230	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:39588230G>C	ENST00000352251.3	-	11	1992	c.1159C>G	c.(1159-1161)Cgg>Ggg	p.R387G	PROSER1_ENST00000350125.3_Missense_Mutation_p.R365G|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	387																	AGAGTGGACCGTGGTGTAGGT	0.542000													16	99					0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80549077	80549077	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:80549077G>A	ENST00000220876.7	+	2	442	c.60G>A	c.(58-60)ctG>ctA	p.L20L	STMN2_ENST00000518111.1_Silent_p.L20L|STMN2_ENST00000518491.1_Silent_p.L9L	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin-like 2	20	Membrane attachment (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			TGCTGTCACTGATCTGCTCTT	0.393000													38	97					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855575	79855575	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:79855575C>G	ENST00000338682.3	-	5	936	c.264G>C	c.(262-264)ctG>ctC	p.L88L		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	88						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AAGCATGCATCAGAGCCGTTT	0.468000													75	195					0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176886132	176886132	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:176886132G>C	ENST00000292385.5	-	12	1708	c.1099C>G	c.(1099-1101)Cca>Gca	p.P367A	DBN1_ENST00000512501.1_Missense_Mutation_p.P97A|DBN1_ENST00000309007.5_Missense_Mutation_p.P365A|DBN1_ENST00000393563.4_Missense_Mutation_p.P97A|DBN1_ENST00000393565.1_Missense_Mutation_p.P411A	NM_080881.2	NP_543157	Q16643	DREB_HUMAN	drebrin 1	365					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGTGGTGGAGGCTGCGAG	0.677000													40	139					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283454	33283454	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:33283454G>C	ENST00000431845.2	-	2	1391	c.1240C>G	c.(1240-1242)Cga>Gga	p.R414G	ZBTB22_ENST00000418724.1_Missense_Mutation_p.R414G	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						AGGAGCGGTCGAGGAGGGTGG	0.607000													45	209					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664463	44664463	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:44664463G>T	ENST00000243964.3	+	4	425	c.327G>T	c.(325-327)caG>caT	p.Q109H	SLC12A5_ENST00000608944.1_Missense_Mutation_p.Q58H|SLC12A5_ENST00000372315.1_Missense_Mutation_p.Q109H|SLC12A5_ENST00000454036.2_Missense_Mutation_p.Q132H	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	132					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGTGCCTGCAGAACATCTTTG	0.597000													25	48					1.96895e-08	2.03281e-08	1	1	0
COQ9	57017	broad.mit.edu	37	16	57490841	57490841	+	Splice_Site	SNP	A	A	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:57490841A>G	ENST00000262507.6	+	5	590		c.e5-1		COQ9_ENST00000567072.1_Intron|COQ9_ENST00000567933.1_Intron	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9						ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TCCCTCTTCCAGGAAGAGGAA	0.542000													11	40					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42632057	42632057	+	Silent	SNP	A	A	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:42632057A>G	ENST00000318010.8	+	17	2274	c.2034A>G	c.(2032-2034)ccA>ccG	p.P678P		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	678					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GCCTCCTGCCATATTGGTATT	0.522000													27	62					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236804	33236804	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:33236804C>G	ENST00000401073.2	+	6	2094	c.2024C>G	c.(2023-2025)tCc>tGc	p.S675C	KIAA1522_ENST00000373481.3_Missense_Mutation_p.S627C|KIAA1522_ENST00000373480.1_Missense_Mutation_p.S616C|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	616	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)				CCACCTCCCTCCAAGCCCAGG	0.647000													13	133					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989400	53989400	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:53989400C>G	ENST00000514921.1	+	3	462	c.349C>G	c.(349-351)Caa>Gaa	p.Q117E	MLIP_ENST00000274897.5_Missense_Mutation_p.Q117E|MLIP_ENST00000370876.2_Missense_Mutation_p.Q55E|MLIP_ENST00000502396.1_Missense_Mutation_p.Q128E|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Missense_Mutation_p.Q111E|MLIP_ENST00000509997.1_Missense_Mutation_p.Q65E|MLIP_ENST00000370877.2_Missense_Mutation_p.Q65E	NM_001281746.1	NP_001268675.1	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	117						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AAACAAACTTCAAGGGATGCA	0.463000													16	117					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39913514	39913514	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:39913514G>A	ENST00000425673.1	+	16	2058	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R548Q|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.R607Q|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	607					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGGATGAACGGGGGCCTTCC	0.587000													23	48					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578263	14578263	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:14578263G>T	ENST00000544627.1	+	2	1758	c.1438G>T	c.(1438-1440)Gaa>Taa	p.E480*	ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.E472*|ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.E472*|ATF7IP_ENST00000543189.1_Nonsense_Mutation_p.E472*|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.E472*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	472	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGAGAAAATGGAAAGTTCTTT	0.388000													19	69					6.44725e-10	6.73646e-10	1	1	0
FBXL4	26235	broad.mit.edu	37	6	99347252	99347252	+	Silent	SNP	T	T	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:99347252T>C	ENST00000369244.2	-	7	1637	c.1209A>G	c.(1207-1209)ctA>ctG	p.L403L	FBXL4_ENST00000229971.1_Silent_p.L403L	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	403					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTAAGGCCTGTAGATTTGGAC	0.408000													55	78					0	0	1	0	0
GAS5	60674	broad.mit.edu	37	1	173836849	173836849	+	RNA	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:173836849G>C	ENST00000364084.1	-	0	39					NR_002579.1																						ATTACTCTCAGATGTCCCTAC	0.552000													29	59					0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705633	101705633	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:101705633G>A	ENST00000305352.6	+	2	1468	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	365					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCAGAAAGACGAAGGGGACAA	0.547000													10	98					0	0	1	0	0
HOXB6	3216	broad.mit.edu	37	17	46675241	46675241	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:46675241G>A	ENST00000484302.2	-	2	894	c.272C>T	c.(271-273)tCc>tTc	p.S91F	HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.S91F|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000466037.2_RNA			P17509	HXB6_HUMAN	homeobox B6	91					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GTCGGCGCCGGAGAGTGCGCA	0.711000													5	15					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7507157	7507157	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:7507157G>A	ENST00000250113.7	-	5	701	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	123						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TTAACTGGCCGAAGTCGCTCC	0.478000													31	44					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101243457	101243457	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:101243457C>T	ENST00000388798.2	+	15	2120	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	SPAG1_ENST00000251809.3_Silent_p.L643L|SPAG1_ENST00000523302.1_3'UTR	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	643					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAGACGCCCTCAGTAAATACA	0.303000													78	138					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593586	7593586	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:7593586G>A	ENST00000264079.6	+	8	1106	c.981G>A	c.(979-981)caG>caA	p.Q327Q		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	327					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTGCTGCAGAACGTGAGGC	0.627000													32	81					0	0	1	0	0
BOK	666	broad.mit.edu	37	2	242511735	242511735	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:242511735C>A	ENST00000318407.3	+	5	839	c.537C>A	c.(535-537)gtC>gtA	p.V179V		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	179					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus		p.V179V(1)		large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		AGTGTGTGGTCAGCACAGACC	0.647000													7	39					0.000157383	0.000160236	1	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701534	56701534	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:56701534G>A	ENST00000586855.2	-	5	1463	c.1150C>T	c.(1150-1152)Caa>Taa	p.Q384*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.Q384*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	384					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGATCACATTGAAAGGGTCTG	0.537000													27	74					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114044383	114044383	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:114044383G>T	ENST00000369422.3	+	2	167	c.167G>T	c.(166-168)gGa>gTa	p.G56V		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	56	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CTGGCCCTCGGAGGGCTGTGT	0.468000													21	33					5.26018e-13	5.56926e-13	1	1	0
AMBRA1	55626	broad.mit.edu	37	11	46563836	46563836	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:46563836G>A	ENST00000458649.2	-	7	2149	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	AMBRA1_ENST00000426438.1_Silent_p.F577F|AMBRA1_ENST00000534300.1_Silent_p.F577F|AMBRA1_ENST00000533727.1_Silent_p.F487F|AMBRA1_ENST00000528950.1_Silent_p.F577F|AMBRA1_ENST00000298834.3_Silent_p.F577F|AMBRA1_ENST00000314845.3_Silent_p.F487F			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	577					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TATCGTTGTTGAAGGTCAGGA	0.577000													34	74					0	0	1	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755833	140755833	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:140755833C>T	ENST00000517434.1	+	1	2183	c.2183C>T	c.(2182-2184)tCg>tTg	p.S728L	PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGCTTCGGGAGGTGGC	0.647000													52	136					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332369	70332369	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:70332369C>G	ENST00000373644.4	+	2	483	c.274C>G	c.(274-276)Cag>Gag	p.Q92E		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	92					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGTTCTTTTTCAGAACCCAGA	0.498000													32	70					0	0	1	0	0
MLF1	4291	broad.mit.edu	37	3	158310242	158310242	+	Nonsense_Mutation	SNP	C	C	T	rs141212572		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:158310242C>T	ENST00000355893.5	+	2	205	c.67C>T	c.(67-69)Cga>Tga	p.R23*	MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000392822.3_Nonsense_Mutation_p.R39*|MLF1_ENST00000482628.1_5'UTR|MLF1_ENST00000471745.1_5'UTR|MLF1_ENST00000469452.1_5'UTR|MLF1_ENST00000478894.2_5'UTR|MLF1_ENST00000359117.5_5'UTR|MLF1_ENST00000484955.1_5'UTR	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	23					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			TCTTGCACACCGAGAAAATAT	0.363000			T	NPM1	AML								17	53					0	0	1	0	0
MIR219A1	407002	broad.mit.edu	37	6	33175698	33175698	+	RNA	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:33175698C>T	ENST00000362166.1	+	0	87					NR_029633.1																						CGTCCCGAGCCGCCGCCCCCA	0.677000													4	13					0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40742593	40742593	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:40742593G>C	ENST00000216194.7	+	1	87	c.31G>C	c.(31-33)Gac>Cac	p.D11H	ADSL_ENST00000454266.2_Missense_Mutation_p.D11H|ADSL_ENST00000342312.6_Missense_Mutation_p.D11H	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	11					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TGGTTCGCCCGACAGCTACCG	0.637000													5	13					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52902567	52902567	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:52902567C>T	ENST00000261844.7	-	6	696	c.544G>A	c.(544-546)Gat>Aat	p.D182N	FAM214A_ENST00000546305.2_Missense_Mutation_p.D189N	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	182																	AGGTCTACATCAGCAGCACTG	0.343000													52	81					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58443546	58443546	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr20:58443546C>T	ENST00000357552.3	-	38	4135	c.3910G>A	c.(3910-3912)Gag>Aag	p.E1304K	SYCP2_ENST00000371001.2_Missense_Mutation_p.E1304K			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1304					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTCCTTTCTCTTCCATTTCT	0.358000													31	114					0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238427254	238427254	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:238427254C>T	ENST00000264605.3	+	5	812	c.518C>T	c.(517-519)tCa>tTa	p.S173L	MLPH_ENST00000338530.4_Missense_Mutation_p.S173L|MLPH_ENST00000445024.2_Missense_Mutation_p.S173L|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Missense_Mutation_p.S173L|MLPH_ENST00000409373.1_Missense_Mutation_p.S173L	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	173							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GAACCTGGCTCAGAGGCCCAG	0.582000													17	38					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107335135	107335135	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:107335135C>T	ENST00000265715.3	+	12	1635	c.1411C>T	c.(1411-1413)Ctg>Ttg	p.L471L	SLC26A4_ENST00000543100.1_Silent_p.L40L|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000544569.1_Silent_p.L58L|SLC26A4_ENST00000541474.1_Silent_p.L32L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	471					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CATTCCTCGTCTGTGGAGACA	0.413000									Pendred syndrome				32	85					0	0	1	0	0
HIST3H2A	92815	broad.mit.edu	37	1	228645351	228645351	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:228645351G>A	ENST00000366695.2	-	1	209	c.168C>T	c.(166-168)ctC>ctT	p.L56L		NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	56					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				TCAAGTACTCGAGCACCGCGG	0.692000													24	56					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147803635	147803635	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:147803635C>T	ENST00000340253.5	+	13	1861	c.1693C>T	c.(1693-1695)Cac>Tac	p.H565Y	FBXO38_ENST00000296701.6_Missense_Mutation_p.H565Y|FBXO38_ENST00000394370.3_Missense_Mutation_p.H565Y|FBXO38_ENST00000513826.1_Missense_Mutation_p.H565Y			Q6PIJ6	FBX38_HUMAN	F-box protein 38	565						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCCAGCTCACAGCCAGGC	0.423000													32	125					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145578392	145578392	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:145578392C>G	ENST00000393045.2	+	2	445	c.355C>G	c.(355-357)Ctg>Gtg	p.L119V	PIAS3_ENST00000369298.1_Intron|PIAS3_ENST00000369299.3_Missense_Mutation_p.L110V	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	119	PINIT.|Pro-rich.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCACCCCCCTCTGCCCCAGCC	0.617000													35	157					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78686749	78686749	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:78686749G>A	ENST00000545128.1	+	7	1367	c.829G>A	c.(829-831)Gat>Aat	p.D277N	PCSK5_ENST00000376767.3_Missense_Mutation_p.D277N|PCSK5_ENST00000376752.4_Missense_Mutation_p.D277N	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	277	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.D277Y(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCGGATGATGATGGCAAGAC	0.532000													98	167					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75763167	75763167	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:75763167C>G	ENST00000306726.2	-	11	1725	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	405	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCGCCTTCCTCAAAGCTGAAG	0.517000													39	83					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61777946	61777946	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:61777946G>A	ENST00000423902.2	+	38	8927	c.8448G>A	c.(8446-8448)ttG>ttA	p.L2816L	CHD7_ENST00000524602.1_Silent_p.L767L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2816					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCGGGCTGTTGAATAACCCTC	0.567000													11	32					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112608210	112608210	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:112608210C>T	ENST00000550722.1	-	69	11936	c.11541G>A	c.(11539-11541)ctG>ctA	p.L3847L	HECTD4_ENST00000430131.2_Silent_p.L3571L|HECTD4_ENST00000377560.5_Silent_p.L3821L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CAGTGGCATTCAGCACTCGAT	0.572000													19	40					0	0	1	0	0
AOC4P	90586	broad.mit.edu	37	17	41019486	41019486	+	RNA	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:41019486G>C	ENST00000585538.1	+	0	325					NR_002773.1																						GACCTGAGCCGAGAGGAGCTG	0.622000													74	242					0	0	1	0	0
FXYD5	53827	broad.mit.edu	37	19	35655093	35655093	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:35655093G>C	ENST00000342879.3	+	5	1105	c.327G>C	c.(325-327)gaG>gaC	p.E109D	FXYD5_ENST00000541435.2_Missense_Mutation_p.E109D|FXYD5_ENST00000423817.3_Missense_Mutation_p.E109D|FXYD5_ENST00000392219.2_Missense_Mutation_p.E109D|FXYD5_ENST00000392217.3_Missense_Mutation_p.E38D|FXYD5_ENST00000588699.1_Missense_Mutation_p.E109D|FXYD5_ENST00000543307.1_Missense_Mutation_p.E109D|FXYD5_ENST00000590686.1_Missense_Mutation_p.E109D|FXYD5_ENST00000591716.2_3'UTR			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	109					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CGCTCTCTGAGAGACCATCCC	0.547000													28	91					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577912	14577912	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:14577912G>C	ENST00000544627.1	+	2	1407	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H	ATF7IP_ENST00000261168.4_Missense_Mutation_p.D355H|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D355H|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D355H|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.D355H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	355	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCTAGAAACAGATGATACAAC	0.333000													30	82					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62362915	62362915	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:62362915G>T	ENST00000278823.2	-	14	1693	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	MTA2_ENST00000524902.1_Missense_Mutation_p.S262Y|MTA2_ENST00000527204.1_Missense_Mutation_p.S262Y	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	435					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TGTGTAAGGAGAGAGACTTTG	0.507000													29	113					3.80469e-20	4.11493e-20	1	1	0
NUP205	23165	broad.mit.edu	37	7	135330313	135330313	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:135330313G>A	ENST00000285968.6	+	41	5807	c.5781G>A	c.(5779-5781)tcG>tcA	p.S1927S		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1927					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.S1927S(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TATTTGCCTCGAGAACCTTGT	0.378000											OREG0018343	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	95					0	0	1	0	0
APOA2	336	broad.mit.edu	37	1	161192715	161192715	+	Missense_Mutation	SNP	C	C	T	rs146224429		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:161192715C>T	ENST00000464492.1	-	3	315	c.277G>A	c.(277-279)Gag>Aag	p.E93K	APOA2_ENST00000463812.1_Missense_Mutation_p.E12K|APOA2_ENST00000468465.1_Missense_Mutation_p.E12K|APOA2_ENST00000367990.3_Missense_Mutation_p.E60K|APOA2_ENST00000491350.1_Intron|APOA2_ENST00000470459.2_Missense_Mutation_p.E60K			P02652	APOA2_HUMAN	apolipoprotein A-II						cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TACTTGGCCTCGGCCTGAAGC	0.562000													26	147					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49391498	49391498	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:49391498C>T	ENST00000221399.3	-	8	801	c.657G>A	c.(655-657)aaG>aaA	p.K219K		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	219					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		AGGCCTCTCTCTTCTTTTCCA	0.547000													22	61					0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40698050	40698050	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:40698050C>T	ENST00000249760.2	+	1	365	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Silent_p.L11L|IVD_ENST00000479013.2_Silent_p.L11L	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	8					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GACTCGGCTGCTGGGGTGGCG	0.647000													38	97					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133363149	133363149	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:133363149C>G	ENST00000260810.5	-	11	1694	c.1563G>C	c.(1561-1563)ttG>ttC	p.L521F	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	521					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TAGAATCATTCAAGGGCTCAG	0.388000								Other conserved DNA damage response genes					11	42					0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104404705	104404705	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:104404705G>C	ENST00000302424.7	+	1	453	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8							cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCTGCGCTGCGAGGCGCCCTG	0.746000													9	9					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52903947	52903947	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:52903947C>G	ENST00000261844.7	-	4	381	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.E84Q	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	77																	AATGTGACCTCAGACCTAGTT	0.413000													26	82					0	0	1	0	0
MCUR1	63933	broad.mit.edu	37	6	13792194	13792194	+	Missense_Mutation	SNP	T	T	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:13792194T>C	ENST00000379170.4	-	8	1078	c.940A>G	c.(940-942)Aca>Gca	p.T314A		NM_001031713.3	NP_001026883.1			mitochondrial calcium uniporter regulator 1																		TTCCTGTCTGTCTGGGTAAGG	0.453000													15	53					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91940549	91940549	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:91940549G>C	ENST00000375807.3	+	3	461	c.390G>C	c.(388-390)gaG>gaC	p.E130D	SECISBP2_ENST00000534113.2_Missense_Mutation_p.E62D|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E57D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	130					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ATCGAAATGAGAACACATGCC	0.403000													46	78					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133900348	133900348	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:133900348G>A	ENST00000220616.4	+	10	2336	c.2296G>A	c.(2296-2298)Gat>Aat	p.D766N	TG_ENST00000377869.1_Missense_Mutation_p.D766N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	766	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGCAGCACCGATGGGCAGTG	0.577000													22	43					0	0	1	0	0
ZNHIT1	10467	broad.mit.edu	37	7	100866997	100866997	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:100866997C>T	ENST00000305105.2	+	4	845	c.317C>T	c.(316-318)gCg>gTg	p.A106V	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	106							metal ion binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					ACGGCCTGTGCGGGACCCCCA	0.667000													4	179					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111958851	111958851	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:111958851G>C	ENST00000305815.5	-	12	1534	c.1282C>G	c.(1282-1284)Ctt>Gtt	p.L428V	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L380V	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	428					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GCATCACGAAGACCTTTGATA	0.338000													20	49					0	0	1	0	0
TPBG	7162	broad.mit.edu	37	6	83075883	83075883	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:83075883G>C	ENST00000369750.3	+	2	1822	c.1205G>C	c.(1204-1206)aGa>aCa	p.R402T	TPBG_ENST00000543496.1_Missense_Mutation_p.R402T|TPBG_ENST00000535040.1_Missense_Mutation_p.R402T			Q13641	TPBG_HUMAN	trophoblast glycoprotein	402					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TATCATTACAGATATGAAATC	0.428000													14	60					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149459864	149459864	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:149459864C>T	ENST00000286301.3	-	4	634	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	CSF1R_ENST00000543093.1_Missense_Mutation_p.V115M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	115	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AACACGACCACCTCCTGTGCT	0.652000													18	53					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100481477	100481477	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:100481477C>G	ENST00000370552.3	-	5	952	c.893G>C	c.(892-894)aGa>aCa	p.R298T	HPSE2_ENST00000370546.1_Missense_Mutation_p.R298T|HPSE2_ENST00000404542.1_Missense_Mutation_p.R186T|HPSE2_ENST00000370549.1_Missense_Mutation_p.R240T	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	298					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TAAGCTGGCTCTGGAATAAAT	0.488000													8	52					0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22416522	22416522	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:22416522C>T	ENST00000315554.8	+	6	677	c.573C>T	c.(571-573)ttC>ttT	p.F191F	CDC42_ENST00000421089.2_Intron|CDC42_ENST00000400259.1_Intron|CDC42_ENST00000344548.3_Intron	NM_044472.2	NP_426359.1	P60953	CDC42_HUMAN	cell division cycle 42	0					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GCTGTATATTCTAAACTGTTT	0.438000													13	24					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57423036	57423036	+	Missense_Mutation	SNP	G	G	A	rs142142372		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:57423036G>A	ENST00000442789.2	-	28	3172	c.2885C>T	c.(2884-2886)tCg>tTg	p.S962L	MYO1A_ENST00000544473.1_Missense_Mutation_p.S800L|MYO1A_ENST00000300119.3_Missense_Mutation_p.S962L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	962					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGAGCCCACCGATGACATCTT	0.527000													32	103					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750262	142750262	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:142750262G>A	ENST00000418316.1	+	1	846	c.825G>A	c.(823-825)gtG>gtA	p.V275V		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGGCCTTGGTGACTTCAGTTC	0.502000													9	128					0	0	1	0	0
GLTPD1	80772	broad.mit.edu	37	1	1263143	1263143	+	Nonstop_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:1263143G>C	ENST00000343938.4	+	3	1056	c.645G>C	c.(643-645)taG>taC	p.*215Y	GLTPD1_ENST00000464957.1_3'UTR	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	0						cytoplasm	glycolipid binding|glycolipid transporter activity	p.*215Y(1)		lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTGCCCTAGGGGCGGGAAG	0.682000													34	92					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642904	156642904	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:156642904G>T	ENST00000368223.3	-	4	1208	c.1076C>A	c.(1075-1077)cCc>cAc	p.P359H		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	359	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCAGGCAAGGGTGAGGGGAG	0.607000													18	100					1.67942e-08	1.73764e-08	1	1	0
CUBN	8029	broad.mit.edu	37	10	16967370	16967370	+	Silent	SNP	A	A	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:16967370A>G	ENST00000377833.4	-	43	6581	c.6516T>C	c.(6514-6516)aaT>aaC	p.N2172N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2172	CUB 15.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAATGACCATTTCCTCCAG	0.398000													25	51					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14947666	14947666	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:14947666G>C	ENST00000261167.2	-	7	759	c.526C>G	c.(526-528)Cca>Gca	p.P176A		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	176	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GCCCGAGTTGGAGGTCTGTTA	0.433000													27	90					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62362912	62362912	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:62362912G>A	ENST00000278823.2	-	14	1696	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	MTA2_ENST00000524902.1_Missense_Mutation_p.P263L|MTA2_ENST00000527204.1_Missense_Mutation_p.P263L	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	436					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTTGTGTAAGGAGAGAGACT	0.507000													29	116					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201788964	201788964	+	Splice_Site	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:201788964G>C	ENST00000367296.4	+	30	5958		c.e30-1		IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Splice_Site|NAV1_ENST00000367295.1_Splice_Site|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000367302.1_Splice_Site|NAV1_ENST00000367297.4_Splice_Site|NAV1_ENST00000367300.3_Splice_Site	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1						cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCCCCTTTAGATGGCCATGC	0.488000													6	48					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35515735	35515735	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:35515735G>A	ENST00000378880.2	-	2	604	c.159C>T	c.(157-159)tgC>tgT	p.C53C	PAMR1_ENST00000378878.3_Silent_p.C53C|PAMR1_ENST00000278360.3_Silent_p.C53C|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Silent_p.C13C	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	53	Cys-rich.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CGGGGCAGACGCACTCAATCT	0.507000													51	92					0	0	1	0	0
MPPE1	65258	broad.mit.edu	37	18	11886744	11886744	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:11886744G>A	ENST00000588072.1	-	8	1933	c.712C>T	c.(712-714)Ctg>Ttg	p.L238L	MPPE1_ENST00000399978.2_Silent_p.L239L|MPPE1_ENST00000317235.7_Intron|MPPE1_ENST00000344987.7_Intron|MPPE1_ENST00000309976.9_Intron	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	238					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GTGGGCAGCAGAGGCCCAGGT	0.627000													32	31					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919205	51919205	+	Missense_Mutation	SNP	C	C	A	rs148851651		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:51919205C>A	ENST00000353836.5	-	5	1192	c.971G>T	c.(970-972)cGa>cTa	p.R324L	SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R276L|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.R324L|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R324L|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R241L|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R266L|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R266L|SIGLEC10_ENST00000525998.1_Intron	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	324	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GTTCTCCGCTCGGCAGGTGTA	0.672000													39	104					2.40579e-17	2.59315e-17	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137658893	137658893	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:137658893C>T	ENST00000371817.3	+	23	2595	c.2181C>T	c.(2179-2181)ggC>ggT	p.G727G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	727	Triple-helical region.			G -> Q (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTAATCCAGGCGCCCAGGTAA	0.657000													11	11					0	0	1	0	0
C16orf93	90835	broad.mit.edu	37	16	30772537	30772537	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:30772537C>A	ENST00000543610.1	-	2	1179	c.218G>T	c.(217-219)cGa>cTa	p.R73L	C16orf93_ENST00000545825.1_Missense_Mutation_p.R73L|C16orf93_ENST00000541260.1_Missense_Mutation_p.R73L	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	73										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						GATCCGGGGTCGGGGCAGCGG	0.562000													22	98					3.01185e-09	3.12643e-09	1	1	0
CECR2	27443	broad.mit.edu	37	22	18028152	18028152	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:18028152G>A	ENST00000400573.5	+	17	3116	c.3109G>A	c.(3109-3111)Ggg>Agg	p.G1037R	CECR2_ENST00000400585.2_Missense_Mutation_p.G895R|CECR2_ENST00000262608.8_Missense_Mutation_p.G1038R			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGGAGTCATTGGGGAAGCATC	0.627000													18	51					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186961381	186961381	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:186961381C>T	ENST00000337774.5	-	9	1508	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	MASP1_ENST00000392472.2_Silent_p.L260L|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Silent_p.L373L	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	373	Sushi 2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCCCGTGTTCCAGCTCTCCTG	0.478000													49	132					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81746426	81746426	+	Missense_Mutation	SNP	T	T	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:81746426T>C	ENST00000356860.3	-	6	798	c.460A>G	c.(460-462)Aat>Gat	p.N154D	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.N154D|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.N154D	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	154						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CGTCCAAAATTAGCATCTTCA	0.358000													37	89					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462750	5462750	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:5462750C>T	ENST00000345221.3	-	4	1820	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	NLRP1_ENST00000354411.3_Silent_p.P422P|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.P422P|NLRP1_ENST00000577119.1_Silent_p.P422P|NLRP1_ENST00000269280.4_Silent_p.P422P|NLRP1_ENST00000572272.1_Silent_p.P422P	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	422	NACHT.				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)				GCTCAGAACTCGGCTCCTGCA	0.587000													13	26					0	0	1	0	0
TBX2	6909	broad.mit.edu	37	17	59480559	59480559	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:59480559G>C	ENST00000240328.3	+	3	1082	c.801G>C	c.(799-801)caG>caC	p.Q267H	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	267					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CTGCCTACCAGAATGACAAGG	0.637000													44	98					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219294199	219294199	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:219294199C>G	ENST00000248444.5	+	7	847	c.759C>G	c.(757-759)ctC>ctG	p.L253L	VIL1_ENST00000392114.2_5'UTR|VIL1_ENST00000440053.1_Silent_p.L253L	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	253	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCTGCACTCAAACTGTACC	0.657000													8	64					0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34623673	34623673	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:34623673C>G	ENST00000378909.2	-	4	706	c.614G>C	c.(613-615)cGa>cCa	p.R205P		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	205	ARID.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GCTGAGCGCTCGAGTCTCGCA	0.647000													4	6					0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21974206	21974206	+	Splice_Site	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:21974206C>T	ENST00000268379.4	+	6	1278	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	UQCRC2_ENST00000561553.1_Splice_Site_p.H172Y	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	172					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TCCGCAGACTCGTAAGTACAT	0.368000													19	53					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210010	100210010	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:100210010C>G	ENST00000409236.2	-	13	2225	c.2113G>C	c.(2113-2115)Gat>Cat	p.D705H	AFF3_ENST00000317233.4_Missense_Mutation_p.D705H|AFF3_ENST00000409579.1_Missense_Mutation_p.D730H|AFF3_ENST00000356421.2_Missense_Mutation_p.D730H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGCCTCTGATCATTCCCGGAG	0.627000													31	143					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133478167	133478167	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:133478167G>T	ENST00000402696.3	+	9	1682	c.1197G>T	c.(1195-1197)aaG>aaT	p.K399N	TF_ENST00000264998.3_Missense_Mutation_p.K272N	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	399	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GCATCGCCAAGATCATGGTAT	0.537000													34	78					4.62619e-21	5.01477e-21	1	1	0
ANXA5	308	broad.mit.edu	37	4	122607479	122607479	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:122607479C>T	ENST00000296511.5	-	3	343	c.58G>A	c.(58-60)Gat>Aat	p.D20N	ANXA5_ENST00000515017.1_Missense_Mutation_p.D20N|ANXA5_ENST00000501272.2_Intron|ANXA5_ENST00000509016.1_5'UTR	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	20					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						GTTTCTGCATCAGCCCGCTCA	0.383000													14	90					0	0	1	0	0
SRSF8	10929	broad.mit.edu	37	11	94800429	94800429	+	RNA	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:94800429G>A	ENST00000529911.1	+	0	69					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding										TGGACGGCATGATCACCCTCA	0.687000													11	17					0	0	1	0	0
TRMU	55687	broad.mit.edu	37	22	46739199	46739199	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:46739199C>G	ENST00000290846.4	+	3	629	c.289C>G	c.(289-291)Cct>Gct	p.P97A	TRMU_ENST00000381019.3_Missense_Mutation_p.P97A|TRMU_ENST00000424260.2_Missense_Mutation_p.P62A	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	97	Interaction with target base in tRNA (By similarity).					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GACTCCCAATCCTGACATAGT	0.294000													15	70					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573136	38573136	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:38573136G>A	ENST00000222345.6	+	3	1440	c.931G>A	c.(931-933)Gag>Aag	p.E311K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	311					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGCAAACCCGAGGGGGAGGC	0.687000													11	37					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86087881	86087881	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:86087881G>A	ENST00000330753.4	+	2	790	c.23G>A	c.(22-24)tGg>tAg	p.W8*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.W8*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	8					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ACCACAAAGTGGCCCAGCCAT	0.443000													40	69					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559962	140559962	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:140559962G>C	ENST00000239444.2	+	1	2592	c.2347G>C	c.(2347-2349)Gaa>Caa	p.E783Q		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		783					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)			TTTTGGGCCAGAAATGGAACA	0.378000													31	30					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223496381	223496381	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:223496381C>G	ENST00000281828.6	-	8	991	c.728G>C	c.(727-729)aGa>aCa	p.R243T	FARSB_ENST00000536361.1_Missense_Mutation_p.R144T	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	243					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TACTGTTATTCTGGAATGATC	0.299000													19	67					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440909	145440909	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:145440909C>G	ENST00000369317.4	+	7	1330	c.996C>G	c.(994-996)ccC>ccG	p.P332P	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	332					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGCTCCTCCCTGCTATATGG	0.443000													29	162					0	0	1	0	0
IGKV6-21	28906	broad.mit.edu	37	2	89459250	89459250	+	RNA	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:89459250C>T	ENST00000390256.2	-	0	390																											AACTACTACTCTGATGACAGT	0.473000													34	168					0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74963867	74963867	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:74963867G>C	ENST00000315127.4	-	3	594	c.413C>G	c.(412-414)tCa>tGa	p.S138*	EDC3_ENST00000426797.3_Nonsense_Mutation_p.S138*|EDC3_ENST00000568176.1_Nonsense_Mutation_p.S138*	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	138					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						ATAGCTCTTTGAGCACTGTTG	0.502000													43	152					0	0	1	0	0
MBD4	8930	broad.mit.edu	37	3	129155755	129155755	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:129155755C>T	ENST00000429544.2	-	3	927	c.732G>A	c.(730-732)aaG>aaA	p.K244K	MBD4_ENST00000507208.1_Silent_p.K244K|MBD4_ENST00000249910.1_Silent_p.K244K|MBD4_ENST00000503197.1_Silent_p.K244K|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	244					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTTTAGTTTTCTTAATTGGGA	0.358000								Base excision repair (BER), DNA glycosylases					63	191					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305911	27305911	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:27305911C>G	ENST00000380320.4	+	4	1971	c.1472C>G	c.(1471-1473)tCt>tGt	p.S491C		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	491					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAGGACTCTCAAGTCAGC	0.692000													8	25					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159778984	159778984	+	Missense_Mutation	SNP	G	G	A	rs148840420	byFrequency	TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:159778984G>A	ENST00000321935.6	+	5	660	c.574G>A	c.(574-576)Gag>Aag	p.E192K	FCRL6_ENST00000339348.5_Missense_Mutation_p.E185K|FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000368106.3_Missense_Mutation_p.E185K	NM_001284217.1	NP_001271146.1	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	185	Ig-like C2-type 2.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GGTGGCCCCTGAGGGTGGCCA	0.667000													37	90					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152054377	152054377	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:152054377C>T	ENST00000409598.4	-	16	2825	c.1658G>A	c.(1657-1659)tGt>tAt	p.C553Y	SH3D19_ENST00000409252.2_Missense_Mutation_p.C576Y|SH3D19_ENST00000514152.1_Missense_Mutation_p.C553Y|SH3D19_ENST00000304527.4_Missense_Mutation_p.C576Y|SH3D19_ENST00000424281.1_Missense_Mutation_p.C517Y|SH3D19_ENST00000427414.2_Missense_Mutation_p.C517Y|SH3D19_ENST00000455740.1_Missense_Mutation_p.C553Y			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	576	SH3 2.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCGAGCAACACATCTTGAGCC	0.348000													13	50					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152278649	152278649	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:152278649C>T	ENST00000368799.1	-	3	8748	c.8713G>A	c.(8713-8715)Gag>Aag	p.E2905K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2905	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E2905Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCACCTCTCAGAGTCTTCT	0.567000									Ichthyosis				105	409					0	0	1	0	0
NDUFAF1	51103	broad.mit.edu	37	15	41688867	41688867	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:41688867C>G	ENST00000260361.4	-	2	772	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	131					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TCCAAATCTTCTTTCCCCCGG	0.463000													31	82					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73649902	73649902	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:73649902G>A	ENST00000377687.4	+	4	1788	c.1252G>A	c.(1252-1254)Gat>Aat	p.D418N	KLF5_ENST00000539231.1_Missense_Mutation_p.D327N	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	418					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CGCGCGATCGGATGAGCTGAC	0.602000													27	80					0	0	1	0	0
ERCC8	1161	broad.mit.edu	37	5	60240781	60240781	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:60240781G>A	ENST00000265038.5	-	1	97	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	ERCC8_ENST00000426742.2_5'UTR|ERCC8_ENST00000543101.1_5'UTR	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	19					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TCTGCTCTCCGAAGGCGAAGA	0.527000													27	102					0	0	1	0	0
CDKN1A	1026	broad.mit.edu	37	6	36652044	36652044	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:36652044G>A	ENST00000405375.1	+	2	401	c.166G>A	c.(166-168)Gag>Aag	p.E56K	CDKN1A_ENST00000373711.2_Missense_Mutation_p.E56K|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000244741.5_Missense_Mutation_p.E56K|CDKN1A_ENST00000448526.2_Missense_Mutation_p.E90K	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	56	Required for binding CDKs.				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CTTTGTCACCGAGACACCACT	0.667000													11	66					0	0	1	0	0
PTCD2	79810	broad.mit.edu	37	5	71622442	71622442	+	Missense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:71622442C>A	ENST00000380639.5	+	3	240	c.224C>A	c.(223-225)aCg>aAg	p.T75K	PTCD2_ENST00000543322.1_Missense_Mutation_p.T75K|PTCD2_ENST00000503868.1_Intron|PTCD2_ENST00000536805.1_5'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	75										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CTTCCAGAAACGTATTTTAGA	0.468000													42	141					6.48837e-15	6.94663e-15	1	1	0
FOXM1	2305	broad.mit.edu	37	12	2973499	2973499	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:2973499C>T	ENST00000342628.2	-	8	1366	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	FOXM1_ENST00000359843.3_Missense_Mutation_p.R418H|FOXM1_ENST00000361953.3_Missense_Mutation_p.R403H	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	418					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGGGGCAATGCGGACTCGCTT	0.542000													5	361					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278139	36278139	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:36278139C>T	ENST00000007510.4	+	21	2816	c.2672C>T	c.(2671-2673)cCg>cTg	p.P891L	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P730L|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P755L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	891	Poly-Pro.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCCCCACCCCCGCCCCCTAAG	0.657000													36	70					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296450	238296450	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:238296450G>A	ENST00000295550.4	-	4	1539	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.R157C|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.R363C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R157C|COL6A3_ENST00000392004.3_Missense_Mutation_p.R157C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	363	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCCCGTAGCGAATCTCGTCA	0.627000													15	34					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36763677	36763677	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:36763677G>A	ENST00000431169.1	-	1	377	c.77C>T	c.(76-78)gCc>gTc	p.A26V	AOAH_ENST00000258749.5_Missense_Mutation_p.A26V|AOAH_ENST00000535891.1_Missense_Mutation_p.A26V	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	26					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTCATCGTTGGCTGGAGAGGC	0.498000													26	52					0	0	1	0	0
HAUS3	79441	broad.mit.edu	37	4	2242505	2242505	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:2242505C>G	ENST00000243706.4	-	2	398	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q	POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.E57Q|HAUS3_ENST00000506763.1_Missense_Mutation_p.E57Q	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	57					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTTCCAATTCTCTTTCAGAC	0.408000													23	95					0	0	1	0	0
NDST2	8509	broad.mit.edu	37	10	75567715	75567715	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:75567715G>A	ENST00000603027.1	-	3	1055	c.432C>T	c.(430-432)ctC>ctT	p.L144L	NDST2_ENST00000299641.4_Silent_p.L21L|NDST2_ENST00000309979.6_Silent_p.L144L						144																	TGACATACTTGAGCAGGTTCT	0.527000													34	96					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94526466	94526466	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr14:94526466C>G	ENST00000330836.5	-	5	2022	c.1891G>C	c.(1891-1893)Gag>Cag	p.E631Q	DDX24_ENST00000544005.1_Missense_Mutation_p.E381Q|DDX24_ENST00000555054.1_Missense_Mutation_p.E588Q	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	631	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCAAACTGCTCCAGGTTTCTG	0.527000													58	54					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19474600	19474600	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:19474600G>C	ENST00000375267.2	-	51	7519	c.7516C>G	c.(7516-7518)Cag>Gag	p.Q2506E	UBR4_ENST00000375226.2_Missense_Mutation_p.Q2517E|UBR4_ENST00000375254.3_Missense_Mutation_p.Q2506E|UBR4_ENST00000375217.2_Missense_Mutation_p.Q2506E			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2506					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)		GCCAGCTCCTGAGCAGCATTC	0.557000													18	39					0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1055769	1055769	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:1055769C>G	ENST00000259622.6	+	3	676	c.676C>G	c.(676-678)Ctt>Gtt	p.L226V	DMRT2_ENST00000412350.2_Missense_Mutation_p.L226V|DMRT2_ENST00000382251.3_Intron|DMRT2_ENST00000382255.3_Missense_Mutation_p.L226V|DMRT2_ENST00000358146.2_Intron|DMRT2_ENST00000302441.6_Intron			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	0					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AATGAACCATCTTTAGAAAAT	0.274000													12	47					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70508129	70508129	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:70508129G>A	ENST00000288078.6	+	16	2107	c.1875G>A	c.(1873-1875)cgG>cgA	p.R625R	FUK_ENST00000378912.2_Silent_p.R657R|FUK_ENST00000571514.1_Silent_p.R116R	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	625						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGGGCTTGCGGAGCGGGCCAG	0.697000													4	15					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13916659	13916659	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:13916659G>A	ENST00000285018.4	-	2	387	c.83C>T	c.(82-84)tCa>tTa	p.S28L	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	28					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AGCTACCACTGAGGAGAAGCC	0.622000													16	74					0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57870686	57870686	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:57870686G>A	ENST00000393797.2	-	9	1336	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	ARHGAP9_ENST00000356411.2_Nonsense_Mutation_p.R311*|ARHGAP9_ENST00000393791.3_Nonsense_Mutation_p.R311*|ARHGAP9_ENST00000550288.1_Nonsense_Mutation_p.R390*|ARHGAP9_ENST00000550454.1_Intron|ARHGAP9_ENST00000430041.2_Nonsense_Mutation_p.R127*|ARHGAP9_ENST00000424809.2_Nonsense_Mutation_p.R311*			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	311	PH.				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)			GGCAGAGGTCGAGGGGCCTGC	0.617000													31	111					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091081	74091081	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:74091081G>C	ENST00000443185.2	-	4	3306	c.2989C>G	c.(2989-2991)Cta>Gta	p.L997V	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	997					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGGGGAGGTAGAGGAGGAGCG	0.677000													7	50					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18882728	18882728	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:18882728G>C	ENST00000446231.2	-	16	2672	c.2260C>G	c.(2260-2262)Ctt>Gtt	p.L754V	SMG1_ENST00000389467.3_Missense_Mutation_p.L754V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	754	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAAGACGGAAGAGAGAATAAA	0.333000													8	30					0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41132975	41132975	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:41132975G>A	ENST00000361677.1	+	1	394	c.382G>A	c.(382-384)Gac>Aac	p.D128N		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	128										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GGAGCTCGAAGACTTCGCCTT	0.721000													3	7					0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567363	45567363	+	RNA	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:45567363C>T	ENST00000256692.5	-	0	1322					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGTGGTAAACTCTTCTTTGT	0.433000													10	87					0	0	1	0	0
ARPC1B	10095	broad.mit.edu	37	7	98984382	98984382	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:98984382G>A	ENST00000451682.1	+	5	448	c.139G>A	c.(139-141)Gag>Aag	p.E47K	ARPC1B_ENST00000252725.5_Missense_Mutation_p.E47K|ARPC1B_ENST00000474880.1_3'UTR|ARPC1A_ENST00000432884.2_3'UTR			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	47					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGGTGCACGAGCTCAAGGA	0.577000													74	137					0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34622033	34622033	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:34622033G>A	ENST00000378909.2	-	6	1214	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	374	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		AGACCACCCCGTTGATCTCTA	0.552000													51	88					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607132	84607132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:84607132C>T	ENST00000344803.2	+	4	1794	c.1747C>T	c.(1747-1749)Caa>Taa	p.Q583*		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GTCCCTGGCTCAACCTCAATC	0.537000													51	63					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69594084	69594084	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:69594084G>C	ENST00000374403.3	+	16	1840	c.1758G>C	c.(1756-1758)aaG>aaC	p.K586N	KIF4A_ENST00000374388.3_Missense_Mutation_p.K586N	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	586					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AGACAGCAAAGAAGGATGCCA	0.353000													23	19					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50595857	50595857	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:50595857G>A	ENST00000444124.2	-	6	892	c.692C>T	c.(691-693)gCg>gTg	p.A231V	DDC_ENST00000426377.1_Missense_Mutation_p.A153V|DDC_ENST00000431062.1_Intron|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000357936.5_Missense_Mutation_p.A231V|DDC_ENST00000380984.4_Missense_Mutation_p.A231V	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	231					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CAGGCCAGCCGCTTTGTCTCT	0.488000													46	98					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104116384	104116384	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:104116384C>G	ENST00000265148.3	-	5	453	c.364G>C	c.(364-366)Gat>Cat	p.D122H	CENPE_ENST00000380026.3_Missense_Mutation_p.D122H	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	122	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AATTCCCTATCAGGAAACTAG	0.308000													7	54					0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88854260	88854260	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr10:88854260C>T	ENST00000277865.4	-	1	363	c.267G>A	c.(265-267)ctG>ctA	p.L89L		NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	89					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCCGGGTCCTCAGGTCCTCCA	0.642000													70	152					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17837079	17837079	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:17837079G>A	ENST00000324096.4	+	5	1037	c.886G>A	c.(886-888)Gac>Aac	p.D296N	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.D270N	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	296	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCCTGGCGCCGACAGCCTCCC	0.687000													6	25					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978917	41978917	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:41978917G>A	ENST00000372584.1	-	7	6989	c.5975C>T	c.(5974-5976)tCa>tTa	p.S1992L	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1992L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S1992L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1992L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1992					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTGGGGAGATGAGTCGTTTTT	0.632000													65	142					0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90270462	90270462	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:90270462C>T	ENST00000268130.7	+	9	1056	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	WDR93_ENST00000560294.1_Missense_Mutation_p.H319Y|WDR93_ENST00000444934.2_Missense_Mutation_p.H36Y	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	319					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CGGGCAGAATCATTTCATCAA	0.488000													21	62					0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81712222	81712222	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:81712222C>T	ENST00000537098.3	+	10	1449	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	CMIP_ENST00000398040.4_Silent_p.I306I|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.I365I	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	425						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						ACGTGGAAATCCTCAAGCTGC	0.682000													9	21					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390576	158390576	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:158390576G>C	ENST00000314902.2	-	1	80	c.81C>G	c.(79-81)ctC>ctG	p.L27L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGATAACAAAGAGCAGCTGCT	0.527000													18	93					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227800	75227800	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:75227800C>G	ENST00000342232.4	-	2	475	c.435G>C	c.(433-435)caG>caC	p.Q145H		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	145					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AGGGCACGCTCTGGCGCACGC	0.682000													11	34					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32789697	32789697	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:32789697G>A	ENST00000326958.1	+	1	753	c.190G>A	c.(190-192)Gtt>Att	p.V64I	NPR3_ENST00000265074.8_3'UTR																							ATTCAAAGACGTTTGCTTTGG	0.388000													33	64					0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40851755	40851755	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:40851755G>T	ENST00000255224.3	-	3	1260	c.892C>A	c.(892-894)Cag>Aag	p.Q298K	SYT4_ENST00000590752.1_Missense_Mutation_p.Q280K|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	298	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GTGGTGGACTGATAGCAGAGA	0.393000													19	122					7.45023e-12	7.83586e-12	1	1	0
RDH16	8608	broad.mit.edu	37	12	57345867	57345867	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:57345867G>A	ENST00000398138.3	-	4	1756	c.900C>T	c.(898-900)ttC>ttT	p.F300F	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	300					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CATCCACCAGGAAGGTGGGCA	0.562000													20	47					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9815234	9815234	+	Silent	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:9815234G>A	ENST00000377298.4	-	4	1170	c.378C>T	c.(376-378)ttC>ttT	p.F126F	CLSTN1_ENST00000361311.4_Silent_p.F116F|CLSTN1_ENST00000377288.3_Silent_p.F126F	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	126	Cadherin 1.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGATGGTGAATGAATAGT	0.468000													64	191					0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71269609	71269609	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:71269609C>G	ENST00000418814.2	+	22	5147	c.4533C>G	c.(4531-4533)ctC>ctG	p.L1511L	FAM135A_ENST00000361499.3_Silent_p.L1315L|FAM135A_ENST00000370479.3_Silent_p.L1298L|FAM135A_ENST00000457062.2_Silent_p.L1298L|FAM135A_ENST00000505769.1_Silent_p.L1091L	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1511										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTGCTGCCCTCAAATATTTCC	0.338000													6	24					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236976	26236976	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:26236976C>G	ENST00000354667.4	-	4	427	c.259G>C	c.(259-261)Gat>Cat	p.D87H	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.D75H	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	87	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ACTCTCCCATCAATTGAATGA	0.448000			T	ETV1	prostate								69	179					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77725015	77725015	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr13:77725015G>C	ENST00000407578.2	-	47	7251	c.6985C>G	c.(6985-6987)Caa>Gaa	p.Q2329E	MYCBP2_ENST00000357337.6_Missense_Mutation_p.Q2291E|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Q2291E|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGAATCCTTTGAGGTTTCTTT	0.403000													46	110					0	0	1	0	0
CDK5R1	8851	broad.mit.edu	37	17	30814690	30814690	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:30814690G>A	ENST00000313401.3	+	2	741	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	18					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CACGCTGTTTGAGGATGGCGC	0.677000													18	74					0	0	1	0	0
LAMTOR5	10542	broad.mit.edu	37	1	110944149	110944149	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:110944149G>C	ENST00000474861.2	-	4	875	c.269C>G	c.(268-270)tCt>tGt	p.S90C	LAMTOR5_ENST00000602858.1_Missense_Mutation_p.S79C|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5_ENST00000256644.4_Missense_Mutation_p.S173C|LAMTOR5_ENST00000483260.1_Missense_Mutation_p.S90C|LAMTOR5_ENST00000602318.1_Missense_Mutation_p.S91C					late endosomal/lysosomal adaptor, MAPK and MTOR activator 5																		TGAGCATCAAGAGGCCATTTT	0.413000													23	53					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48505459	48505459	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:48505459G>C	ENST00000412052.1	+	10	2085	c.1623G>C	c.(1621-1623)ctG>ctC	p.L541L	ATRIP_ENST00000320211.3_Silent_p.L634L|ATRIP_ENST00000346691.4_Silent_p.L634L|ATRIP_ENST00000357105.6_Silent_p.L507L	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	634					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTGCTGCTGCTGTACATGT	0.542000								Other conserved DNA damage response genes					93	186					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106973173	106973173	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:106973173G>A	ENST00000369066.3	+	4	3587	c.3100G>A	c.(3100-3102)Gag>Aag	p.E1034K		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1034	Beta/gamma crystallin 'Greek key' 1.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CGACGTCTCTGAGAAGTGCAT	0.408000													95	143					0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20785503	20785503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:20785503G>T	ENST00000405555.3	-	4	726	c.656C>A	c.(655-657)tCg>tAg	p.S219*	SCARF2_ENST00000266214.5_Nonsense_Mutation_p.S219*	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	219	EGF-like 5.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCAGGGAGACGAGTTGCAGGC	0.711000													5	13					0.0215528	0.021689	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152694288	152694288	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:152694288G>C	ENST00000367255.5	-	59	9992	c.9391C>G	c.(9391-9393)Ctg>Gtg	p.L3131V	SYNE1_ENST00000448038.1_Missense_Mutation_p.L3138V|SYNE1_ENST00000341594.5_Missense_Mutation_p.L3170V|SYNE1_ENST00000265368.4_Missense_Mutation_p.L3131V|SYNE1_ENST00000423061.1_Missense_Mutation_p.L3138V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3131					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGGTACTCAGAAGTTCCCCT	0.373000										HNSCC(10;0.0054)			47	52					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49420547	49420547	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:49420547C>T	ENST00000301067.7	-	48	15201	c.15202G>A	c.(15202-15204)Gag>Aag	p.E5068K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCATACACCTCCGTGGACCAA	0.627000													33	65					0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15744360	15744360	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr9:15744360C>G	ENST00000380701.3	+	17	2467	c.2139C>G	c.(2137-2139)ttC>ttG	p.F713L	CCDC171_ENST00000297641.3_Missense_Mutation_p.F713L	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	713																	ATTCGCACTTCAAAAAACTGT	0.393000													32	70					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238234235	238234235	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:238234235G>A	ENST00000295550.4	-	43	9913	c.9461C>T	c.(9460-9462)tCa>tTa	p.S3154L	COL6A3_ENST00000409809.1_Missense_Mutation_p.S2948L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2953L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S2547L|COL6A3_ENST00000473258.1_5'UTR|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2954L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2948L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3154	BPTI/Kunitz inhibitor.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCTTTCTGTGATCCAAATTT	0.388000													67	168					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184297369	184297369	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:184297369G>A	ENST00000330394.2	+	10	2358	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	636	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CGTCAAGATCGAGGAGGTGAT	0.552000													19	73					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134235319	134235319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:134235319C>T	ENST00000358387.4	+	5	1652	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	TXNDC15_ENST00000546290.1_Nonsense_Mutation_p.R320*	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	343					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCTACCATTCGAACTGAGAG	0.398000													12	71					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2692426	2692426	+	Splice_Site	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:2692426G>C	ENST00000324666.5	+	13	2010	c.1659G>C	c.(1657-1659)ggG>ggC	p.G553G	FAM193A_ENST00000505311.1_Splice_Site_p.G553G|FAM193A_ENST00000382839.3_Splice_Site_p.G553G|FAM193A_ENST00000545951.1_Splice_Site_p.G553G|FAM193A_ENST00000502458.1_Splice_Site_p.G575G	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	553										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TCTTTGAAGGGAGTGAAATAT	0.433000													8	45					0	0	1	0	0
AMN1	196394	broad.mit.edu	37	12	31854800	31854800	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:31854800C>G	ENST00000281471.6	-	3	478	c.313G>C	c.(313-315)Gaa>Caa	p.E105Q	AMN1_ENST00000542781.1_5'UTR|AMN1_ENST00000537562.1_Missense_Mutation_p.E87Q|AMN1_ENST00000541931.1_5'UTR|AMN1_ENST00000536761.1_Missense_Mutation_p.E87Q	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	105										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			AACATACCTTCTGAAGTTACA	0.353000													7	25					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40122320	40122320	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:40122320C>A	ENST00000261435.6	+	9	3005	c.2589C>A	c.(2587-2589)ctC>ctA	p.L863L		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	863						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAGAGCCACTCAATAGCTATA	0.398000													16	43					4.7546e-09	4.93013e-09	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	44107479	44107479	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:44107479C>T	ENST00000262726.7	-	10	1160	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	EFCAB6_ENST00000358439.4_Missense_Mutation_p.E197K|EFCAB6_ENST00000396231.2_Missense_Mutation_p.E151K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	303	EF-hand 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGGGCCTTTTCAACCTTTTCA	0.373000													14	60					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157669491	157669491	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:157669491C>T	ENST00000368184.3	-	3	334	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	FCRL3_ENST00000368186.5_Missense_Mutation_p.E15K	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	15						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTGATTGTTCTCTTCCAGGA	0.488000													7	27					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122354848	122354848	+	Silent	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:122354848C>G	ENST00000483793.1	+	9	1393	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L	PARP15_ENST00000493645.1_Silent_p.L343L|PARP15_ENST00000310366.4_Silent_p.L412L|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000464300.2_Silent_p.L646L			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.L646L(1)|p.L412L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		CCACAGATCTCTTTGACTCAG	0.433000													24	60					0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77764148	77764148	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:77764148G>A	ENST00000381714.3	+	7	1035	c.607G>A	c.(607-609)Gat>Aat	p.D203N	HMG20A_ENST00000336216.4_Missense_Mutation_p.D203N	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	203					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGCCACTCATGATCATGAGGT	0.299000													23	67					0	0	1	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41107939	41107939	+	Missense_Mutation	SNP	G	G	A	rs140774733		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:41107939G>A	ENST00000427255.2	-	5	576	c.509C>T	c.(508-510)tCa>tTa	p.S170L	PPP1R14D_ENST00000299174.5_Silent_p.L131L	NM_001130143.1	NP_001123615.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	0					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TGAGTTGACTGAGCAGCTCAG	0.567000													7	37					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85598446	85598446	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr4:85598446C>T	ENST00000322366.6	-	66	10719	c.10312G>A	c.(10312-10314)Gaa>Aaa	p.E3438K	WDFY3_ENST00000295888.4_Missense_Mutation_p.E3455K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3455						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCACCACCTTCATCCTTCACC	0.542000													19	76					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108117585	108117585	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:108117585C>T	ENST00000273353.3	-	36	5148	c.5092G>A	c.(5092-5094)Gag>Aag	p.E1698K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1698						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTAGATCCTCTAGTTCAGAC	0.512000													105	287					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75798062	75798062	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:75798062C>A	ENST00000306726.2	-	7	1434	c.922G>T	c.(922-924)Gaa>Taa	p.E308*	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	308	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGAATGTCTTCATATTCCTCA	0.478000													47	124					4.18559e-23	4.54748e-23	1	1	0
KRT31	3881	broad.mit.edu	37	17	39551114	39551114	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:39551114C>G	ENST00000251645.2	-	6	1135	c.1083G>C	c.(1081-1083)gaG>gaC	p.E361D		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	361	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				AGTCCTCGCTCTCCAGCAGGC	0.537000													47	173					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615321	158615321	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:158615321G>T	ENST00000368147.4	-	28	4140	c.3960C>A	c.(3958-3960)gaC>gaA	p.D1320E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGCCAGTTAAGTCTTCGGCCA	0.418000													55	173					1.42676e-28	1.55899e-28	1	1	0
BOP1	23246	broad.mit.edu	37	8	145512859	145512859	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:145512859C>T	ENST00000307404.5	-	2	255	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	BOP1_ENST00000529231.1_Silent_p.T3T	NM_015201.3	NP_056016.1	Q14137	BOP1_HUMAN	block of proliferation 1	76					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	nucleoplasm|PeBoW complex	protein binding			lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			TCGTCGCCTTCGTCATCATCC	0.607000													48	57					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707913	50707913	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:50707913C>T	ENST00000330943.4	-	4	526	c.355G>A	c.(355-357)Gac>Aac	p.D119N	SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	119	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TTCGCGAAGTCGGAATAGCGC	0.562000													18	84					0	0	1	0	0
C2orf83	56918	broad.mit.edu	37	2	228497736	228497736	+	Silent	SNP	C	C	T	rs142204126		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:228497736C>T	ENST00000409066.1	-	1	300	c.66G>A	c.(64-66)gtG>gtA	p.V22V	C2orf83_ENST00000264387.4_Silent_p.V22V	NM_001162483.1	NP_001155955.1	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	22						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CAGTCATCGTCACGATGGGTT	0.458000													22	51					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74740478	74740478	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:74740478C>T	ENST00000588460.1	+	7	2613	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	MFSD11_ENST00000586622.1_Missense_Mutation_p.R191W|MFSD11_ENST00000593181.1_Missense_Mutation_p.R139W|MFSD11_ENST00000590514.1_Missense_Mutation_p.R191W|MFSD11_ENST00000355954.3_Missense_Mutation_p.R139W|MFSD11_ENST00000336509.4_Missense_Mutation_p.R191W	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	191						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CTTTCTCATTCGGAAACCAGA	0.398000													36	60					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18847502	18847502	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr16:18847502G>C	ENST00000446231.2	-	48	8222	c.7810C>G	c.(7810-7812)Ctg>Gtg	p.L2604V	SMG1_ENST00000389467.3_Missense_Mutation_p.L2604V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2604					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GCATTCTGCAGAAAGGCTGTT	0.532000													14	21					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57095842	57095842	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:57095842C>T	ENST00000278412.2	-	13	1806	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	514	Arg/Lys-rich (basic).				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CGCTTCTTCTCATCCCGGTCA	0.562000													40	102					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069592	4069592	+	Missense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:4069592G>T	ENST00000274673.3	-	7	1268	c.865C>A	c.(865-867)Cgt>Agt	p.R289S	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	289																	TCCAGTAAACGAGTTATCAAG	0.423000													26	59					1.66031e-10	1.7405e-10	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130318627	130318627	+	Silent	SNP	C	C	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:130318627C>A	ENST00000358511.6	+	19	4657	c.4626C>A	c.(4624-4626)ccC>ccA	p.P1542P	COL6A6_ENST00000453409.2_Silent_p.P1542P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1542	Triple-helical region.				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						CAGGCCCCCCCGGGACACCAG	0.498000													17	53					2.94398e-08	3.03618e-08	1	1	0
RAD50	10111	broad.mit.edu	37	5	131931350	131931350	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:131931350G>C	ENST00000378823.3	+	13	2456	c.1638G>C	c.(1636-1638)caG>caC	p.Q546H	RAD50_ENST00000265335.6_Missense_Mutation_p.Q685H	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	685					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCGTTTGTCAGAGAGTTTTTC	0.438000								Homologous recombination					27	109					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864507	131864507	+	Silent	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:131864507C>T	ENST00000359827.3	-	20	4775	c.3813G>A	c.(3811-3813)ctG>ctA	p.L1271L	PLXNA4_ENST00000321063.4_Silent_p.L1271L			Q9HCM2	PLXA4_HUMAN	plexin A4	1271						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCAGCCGCTTCAGCGTGAGGT	0.592000													27	54					0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144657592	144657592	+	Splice_Site	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr8:144657592C>G	ENST00000449291.2	-	10	1586		c.e10+1		NAPRT1_ENST00000435154.3_Splice_Site|NAPRT1_ENST00000426292.3_Splice_Site|NAPRT1_ENST00000276844.7_Splice_Site|NAPRT1_ENST00000460623.1_Splice_Site|RP11-661A12.9_ENST00000531730.1_RNA			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1						nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGGGCCTCACCGTCAGAGCC	0.652000													67	82					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91403405	91403405	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:91403405G>C	ENST00000370440.1	-	4	3542	c.3325C>G	c.(3325-3327)Caa>Gaa	p.Q1109E	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.Q1109E			Q9H582	ZN644_HUMAN	zinc finger protein 644	1109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GCAAGTTTTTGAGCTACAAAT	0.358000													43	184					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17978524	17978524	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr22:17978524G>A	ENST00000400573.5	+	4	429	c.422G>A	c.(421-423)cGa>cAa	p.R141Q	CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000262608.8_Missense_Mutation_p.R122Q|CECR2_ENST00000342247.5_Missense_Mutation_p.R121Q			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TATGGAACACGAATGTACAAA	0.458000													17	28					0	0	1	0	0
ARIH1	25820	broad.mit.edu	37	15	72837276	72837276	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr15:72837276C>G	ENST00000379887.4	+	3	873	c.559C>G	c.(559-561)Cag>Gag	p.Q187E		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	187	Interaction with UBE2L3.				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TATGCCTTGTCAGATCTGCTA	0.408000													17	59					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11840829	11840829	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:11840829G>A	ENST00000262442.4	+	66	12718	c.12650G>A	c.(12649-12651)aGa>aAa	p.R4217K	DNAH9_ENST00000454412.2_Missense_Mutation_p.R4141K|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.R529K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCGCCACAAGAGAAGAAAAG	0.587000													16	35					0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	136016834	136016834	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr3:136016834G>C	ENST00000471595.1	+	8	822	c.804G>C	c.(802-804)ttG>ttC	p.L268F	PCCB_ENST00000462637.1_Missense_Mutation_p.L245F|PCCB_ENST00000468777.1_Missense_Mutation_p.L299F|PCCB_ENST00000490504.1_Missense_Mutation_p.L211F|PCCB_ENST00000478469.1_Missense_Mutation_p.L268F|PCCB_ENST00000483687.1_Missense_Mutation_p.L249F|PCCB_ENST00000482086.1_Missense_Mutation_p.L152F|PCCB_ENST00000469217.1_Missense_Mutation_p.L288F|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000251654.4_Missense_Mutation_p.L268F|PCCB_ENST00000466072.1_Missense_Mutation_p.L268F			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	268	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TTGATGCCTTGTGTAATCTCC	0.547000													76	268					0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45870875	45870875	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:45870875C>G	ENST00000185206.6	-	6	1335	c.1183G>C	c.(1183-1185)Gag>Cag	p.E395Q	CLIC5_ENST00000339561.6_Missense_Mutation_p.E236Q	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	395	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AACTCGATCTCACTGTCAGCT	0.582000													35	72					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154956531	154956531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:154956531G>T	ENST00000368433.1	+	1	704	c.361G>T	c.(361-363)Gag>Tag	p.E121*	FLAD1_ENST00000315144.10_Nonsense_Mutation_p.E24*|FLAD1_ENST00000368432.1_Nonsense_Mutation_p.E24*|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000292180.3_Nonsense_Mutation_p.E121*|FLAD1_ENST00000368431.3_5'UTR			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	121	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.E121K(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTTGGAGATGAGATCCTTAA	0.582000													7	35					5.18039e-06	5.31394e-06	1	1	0
TENM2	57451	broad.mit.edu	37	5	167645646	167645646	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr5:167645646G>C	ENST00000519204.1	+	22	4505	c.4387G>C	c.(4387-4389)Gag>Cag	p.E1463Q	TENM2_ENST00000520394.1_Missense_Mutation_p.E1345Q|TENM2_ENST00000545108.1_Missense_Mutation_p.E1583Q|TENM2_ENST00000403607.2_Missense_Mutation_p.E1408Q|TENM2_ENST00000518659.1_Missense_Mutation_p.E1584Q					teneurin transmembrane protein 2																		CAACCAGTATGAGGCTGCATC	0.478000													43	190					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032479	21032479	+	Silent	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:21032479G>C	ENST00000381545.3	+	11	1464	c.1245G>C	c.(1243-1245)tcG>tcC	p.S415S	SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.S415S|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Silent_p.S415S|SLCO1B3_ENST00000261196.2_Silent_p.S415S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	415					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S415S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCTTACTTCGATGATATCCT	0.348000													10	45					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16734478	16734478	+	Missense_Mutation	SNP	G	G	C			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr7:16734478G>C	ENST00000433922.2	+	8	849	c.671G>C	c.(670-672)aGa>aCa	p.R224T	BZW2_ENST00000258761.3_Missense_Mutation_p.R224T|BZW2_ENST00000405202.1_Missense_Mutation_p.R148T|BZW2_ENST00000432311.1_Intron|BZW2_ENST00000407633.1_Missense_Mutation_p.R30T|BZW2_ENST00000452975.2_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	224					cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CCAGTTAACAGACAGAGTGTG	0.428000													25	75					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54472666	54472666	+	Missense_Mutation	SNP	C	C	T			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:54472666C>T	ENST00000375135.3	-	18	3495	c.2762G>A	c.(2761-2763)cGa>cAa	p.R921Q		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	921	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGTGTCCCCTCGGCCCGCCCG	0.632000													18	13					0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92964636	92964636	+	Missense_Mutation	SNP	T	T	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:92964636T>A	ENST00000538690.1	+	5	779	c.218T>A	c.(217-219)cTt>cAt	p.L73H	FAM133A_ENST00000355813.5_Missense_Mutation_p.L73H|FAM133A_ENST00000322139.4_Missense_Mutation_p.L73H|FAM133A_ENST00000332647.4_Missense_Mutation_p.L73H	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	73	Lys-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAGAAAGAACTTGAAAAAAGC	0.294000													10	21					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235950392	235950392	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:235950392G>A	ENST00000409212.1	+	4	1486	c.979G>A	c.(979-981)Ggg>Agg	p.G327R	SH3BP4_ENST00000392011.2_Missense_Mutation_p.G327R|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G327R			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	327					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGATAGCTCCGGGGGTGCTGT	0.637000													25	59					0	0	1	0	0
PRG2	5553	broad.mit.edu	37	11	57156498	57156498	+	Silent	SNP	C	C	G	rs150350556		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:57156498C>G	ENST00000311862.5	-	3	424	c.351G>C	c.(349-351)acG>acC	p.T117T	PRG2_ENST00000533605.1_Intron|RP11-872D17.8_ENST00000529411.1_Silent_p.T222T|PRG2_ENST00000525955.1_Silent_p.T117T	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGACTAAACGTCTGAAGAC	0.542000													26	92					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21114524	21114524	+	Splice_Site	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:21114524C>G	ENST00000269228.5	-	23	4032		c.e23-1		NPC1_ENST00000412552.2_Splice_Site	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1						autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCACAGCTCTGAAATAAAG	0.577000													5	29					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1619335	1619335	+	Missense_Mutation	SNP	C	C	G			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr19:1619335C>G	ENST00000262965.5	-	15	1650	c.1306G>C	c.(1306-1308)Ggc>Cgc	p.G436R	TCF3_ENST00000453954.2_Missense_Mutation_p.G352R|TCF3_ENST00000395423.3_Missense_Mutation_p.G385R|TCF3_ENST00000588136.1_Missense_Mutation_p.G436R|TCF3_ENST00000344749.5_Missense_Mutation_p.G436R	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	436					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGCCCGCCCAGTGACATG	0.746000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								8	25					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7268271	7268271	+	Missense_Mutation	SNP	G	G	A			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:7268271G>A	ENST00000217961.4	+	10	1941	c.1721G>A	c.(1720-1722)aGa>aAa	p.R574K		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	574					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CAGTGTGATAGAGAAAAACAG	0.537000									Ichthyosis				14	11					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18133326	18133326	+	Silent	SNP	C	C	T	rs145857913		TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr17:18133326C>T	ENST00000316843.4	+	2	249	c.153C>T	c.(151-153)atC>atT	p.I51I		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	51					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TCATGGCCATCGGCACCAGGT	0.617000													51	63					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236480	33236480	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:33236480delC	ENST00000401073.2	+	6	1770	c.1700delC	c.(1699-1701)tccfs	p.S567fs	KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.S508fs|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.S519fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	508	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)				CCGGGTGGTTCCCGGCGCCCC	0.677													7	33	---	---	---	---					
HDGF	3068	broad.mit.edu	37	1	156714873	156714873	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr1:156714873delT	ENST00000357325.5	-	3	544	c.230delA	c.(229-231)aacfs	p.N77fs	HDGF_ENST00000416666.2_Frame_Shift_Del_p.N45fs|HDGF_ENST00000537739.1_Frame_Shift_Del_p.N77fs|HDGF_ENST00000368206.5_Frame_Shift_Del_p.N93fs|HDGF_ENST00000368209.5_Frame_Shift_Del_p.N70fs|HDGF_ENST00000465180.1_5'UTR	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	77					cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		TTTCCTCTTGTTGGGCTTGCC	0.587													39	81	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175584494	175584494	+	RNA	DEL	T	T	-			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr2:175584494delT	ENST00000442996.1	+	0	217																											TTGCTTCTGATTTTTTTTTTT	0.532											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38757654	38757654	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr6:38757654delA	ENST00000359357.3	+	17	2262	c.2008delA	c.(2008-2010)aaafs	p.K671fs	DNAH8_ENST00000441566.1_Frame_Shift_Del_p.K671fs|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.K888fs					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						CCCAAAAATGAAAAAGGTTGG	0.338													18	89	---	---	---	---					
PPFIA1	8500	broad.mit.edu	37	11	70224295	70224303	+	In_Frame_Del	DEL	ATGGACGGT	ATGGACGGT	-			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr11:70224295_70224303delATGGACGGT	ENST00000389547.3	+	26	3742_3750	c.3544_3552delATGGACGGT	c.(3544-3552)atggacggtdel	p.MDG1182del	AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000253925.7_Splice_Site_p.MDG1182del	NM_177423.2	NP_803172.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1182					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAAGATGCAGATGGACGGTATGTGATGGG	0.464													21	124	---	---	---	---					
KDM5A	5927	broad.mit.edu	37	12	432923	432925	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr12:432923_432925delCTT	ENST00000399788.2	-	15	2353_2355	c.1991_1993delAAG	c.(1990-1995)gaagtg>gtg	p.E664del	KDM5A_ENST00000382815.4_In_Frame_Del_p.E664del	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	664					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGTTCAAACACTTCTTCTTCTGA	0.379			T	NUP98	AML								17	161	---	---	---	---					
LINC00669	647946	broad.mit.edu	37	18	37091893	37091895	+	RNA	DEL	AAG	AAG	-			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chr18:37091893_37091895delAAG	ENST00000591629.1	-	0	440					NR_024391.1																						gaagaggaacaagaagaagaaga	0.473													2	4	---	---	---	---					
DMD	1756	broad.mit.edu	37	X	32662372	32662372	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S5-A6DX-01A-11D-A31L-08	TCGA-S5-A6DX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40f9b621-c4d8-46b1-9d14-059f166891d5	3856e087-c4e4-47ac-98d2-495c7bfb82c6	g.chrX:32662372delC	ENST00000357033.4	-	11	1414	c.1208delG	c.(1207-1209)ggafs	p.G403fs	DMD_ENST00000378677.2_Frame_Shift_Del_p.G399fs|DMD_ENST00000288447.4_Frame_Shift_Del_p.G395fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	403					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAGCTTACTTCCCAATTGTAG	0.403													37	36	---	---	---	---