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
KLF4	9314	broad.mit.edu	37	9	110248112	110248112	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:110248112G>A	ENST00000374672.4	-	5	1833	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	488					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R445C(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						TGGAACGGGCGGTGCCCCGTG	0.527000													48	77					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46281161	46281161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:46281161C>T	ENST00000372004.3	+	21	4162	c.3946C>T	c.(3946-3948)Caa>Taa	p.Q1316*	NCOA3_ENST00000371998.3_Nonsense_Mutation_p.Q1320*|NCOA3_ENST00000371997.3_Nonsense_Mutation_p.Q1311*|NCOA3_ENST00000341724.6_Nonsense_Mutation_p.Q1246*	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	1320					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						AATGGGACAACAACCAGATCC	0.408000													9	60					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104640410	104640410	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:104640410G>A	ENST00000304883.2	-	1	563	c.423C>T	c.(421-423)gtC>gtT	p.V141V		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	141						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGATGAAATTGACCAACGTGT	0.532000													23	37					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41605908	41605908	+	Silent	SNP	A	A	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:41605908A>C	ENST00000313860.7	+	5	415	c.361A>C	c.(361-363)Agg>Cgg	p.R121R	LIMCH1_ENST00000503057.1_5'UTR|LIMCH1_ENST00000508501.1_Silent_p.R121R|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000509638.1_5'UTR|LIMCH1_ENST00000513024.1_5'UTR|LIMCH1_ENST00000512820.1_Silent_p.R121R|LIMCH1_ENST00000512632.1_Silent_p.R121R|LIMCH1_ENST00000512946.1_Silent_p.R121R	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	121	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGATTATAGTAGGAAGCTGAA	0.343000													21	48					0	0	1	0	0
NRM	11270	broad.mit.edu	37	6	30656615	30656615	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:30656615C>T	ENST00000259953.4	-	5	963	c.612G>A	c.(610-612)ctG>ctA	p.L204L	NRM_ENST00000376421.5_Silent_p.L204L|NRM_ENST00000376420.5_Silent_p.L145L|NRM_ENST00000470733.1_5'UTR	NM_007243.2	NP_009174.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	204	Leu-rich.					integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						ACAGCACTGTCAGCAGCTCCA	0.637000													13	14					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884428	38884428	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr21:38884428G>A	ENST00000339659.4	+	11	3329	c.1859G>A	c.(1858-1860)aGg>aAg	p.R620K	DYRK1A_ENST00000455387.2_Missense_Mutation_p.R401K|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.R629K	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						AACCGGACCAGGCCAAGGGTC	0.517000													18	21					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53358755	53358755	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:53358755C>T	ENST00000566029.1	+	39	8803	c.8594C>T	c.(8593-8595)tCt>tTt	p.S2865F	CHD9_ENST00000447540.1_Missense_Mutation_p.S2866F|CHD9_ENST00000564845.1_Missense_Mutation_p.S2865F|CHD9_ENST00000398510.3_Missense_Mutation_p.S2881F			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2881					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCATCTGGATCTGATAGTACA	0.388000													7	6					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57588286	57588286	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:57588286G>A	ENST00000243077.3	+	49	8534	c.8068G>A	c.(8068-8070)Ggt>Agt	p.G2690S	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2690	LDL-receptor class A 14.				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)	CGACTGCCCAGGTGGGCGGGG	0.672000													30	107					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90894946	90894946	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:90894946C>A	ENST00000287934.2	+	1	1164	c.751C>A	c.(751-753)Cct>Act	p.P251T		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	251					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GACCAGCAACCCTCAGCACGG	0.736000													6	9					0.0381472	0.0381817	1	1	0
RIMS2	9699	broad.mit.edu	37	8	105263829	105263829	+	Splice_Site	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:105263829G>C	ENST00000507740.1	+	22	3509		c.e22-1		RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000436393.2_Splice_Site|RIMS2_ENST00000339750.2_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTTGCCAACAGATCATCGTCT	0.348000										HNSCC(12;0.0054)			53	119					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155319216	155319216	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:155319216G>A	ENST00000368346.3	-	19	8110	c.7471C>T	c.(7471-7473)Cta>Tta	p.L2491L	ASH1L_ENST00000392403.3_Silent_p.L2486L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2491	Bromo.				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)			ATAAGATCTAGGGGATCAGAG	0.423000													15	71					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092026	143092026	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:143092026C>G	ENST00000367603.2	-	5	4592	c.3850G>C	c.(3850-3852)Gga>Cga	p.G1284R	HIVEP2_ENST00000367604.1_Missense_Mutation_p.G1284R|HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1284R	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1284					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)		CCTGATGCTCCTGAATAACAT	0.478000													90	92					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54664710	54664710	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:54664710G>A	ENST00000376591.4	-	13	2027	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	TMC4_ENST00000301187.4_Silent_p.I626I|TMC4_ENST00000416963.1_Silent_p.I214I	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	632						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TAGACTCAGGGATCTGGGCCC	0.572000													8	12					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67012526	67012526	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:67012526G>A	ENST00000340001.4	-	22	3118	c.2907C>T	c.(2905-2907)caC>caT	p.H969H	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Silent_p.H969H|ABCA9_ENST00000370732.2_Silent_p.H969H	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	969					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTGAAAATCTGTGATCCTGAA	0.333000													18	142					0	0	1	0	0
TTPAL	79183	broad.mit.edu	37	20	43108694	43108694	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:43108694G>A	ENST00000372904.3	+	3	198	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	TTPAL_ENST00000262605.4_Missense_Mutation_p.E19K|TTPAL_ENST00000372906.2_Missense_Mutation_p.E19K	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	19						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						CTCACTCTCTGAAAATGAGCT	0.542000													18	20					0	0	1	0	0
HLTF	6596	broad.mit.edu	37	3	148759279	148759279	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:148759279G>T	ENST00000310053.5	-	20	2567	c.2374C>A	c.(2374-2376)Cag>Aag	p.Q792K	HLTF_ENST00000465259.1_Missense_Mutation_p.Q791K|HLTF_ENST00000392912.2_Missense_Mutation_p.Q792K|HLTF_ENST00000494055.1_Missense_Mutation_p.Q792K	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	792					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAACTAACCTGCTCATTCTGA	0.353000													41	43					7.53189e-24	8.07927e-24	1	1	0
TMED4	222068	broad.mit.edu	37	7	44620777	44620777	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:44620777T>C	ENST00000457408.2	-	4	501	c.449A>G	c.(448-450)aAa>aGa	p.K150R	TMED4_ENST00000289577.5_Intron|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Missense_Mutation_p.K150R	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	150					positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CAGCTTATCTTTTGCAGCAAT	0.532000													17	44					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139903035	139903035	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:139903035C>G	ENST00000265662.5	-	48	7255	c.7108G>C	c.(7108-7110)Gag>Cag	p.E2370Q	ABCA2_ENST00000341511.6_Missense_Mutation_p.E2370Q|ABCA2_ENST00000371605.3_Missense_Mutation_p.E2369Q			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2369					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCTGCTGCTCCAGGTTGTCA	0.692000													5	6					0	0	1	0	0
CMTR1	23070	broad.mit.edu	37	6	37429868	37429868	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:37429868A>T	ENST00000373451.4	+	12	1479	c.1315A>T	c.(1315-1317)Aac>Tac	p.N439Y		NM_015050.2	NP_055865.1			cap methyltransferase 1	439																	CCGTCCTGCCAACTCAGAGAG	0.463000													45	58					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47745704	47745704	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:47745704G>A	ENST00000263773.5	-	14	2352	c.2340C>T	c.(2338-2340)atC>atT	p.I780I		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	780										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AAGAACTAGAGATGGTGGAAT	0.438000													15	24					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43020305	43020305	+	Silent	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:43020305G>T	ENST00000535468.1	-	2	464	c.378C>A	c.(376-378)atC>atA	p.I126I	CUL7_ENST00000265348.3_Silent_p.I74I	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	74					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTTGGCATAGATCTCATCCT	0.627000													4	47					0.00909568	0.00914525	1	1	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252107	26252107	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:26252107G>A	ENST00000356350.2	+	1	229	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	77					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E77K(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CATCGCCGGCGAGGCTTCCCG	0.592000													37	159					0	0	1	0	0
NAGA	4668	broad.mit.edu	37	22	42461877	42461877	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:42461877G>A	ENST00000396398.3	-	6	1156	c.624C>T	c.(622-624)atC>atT	p.I208I	NAGA_ENST00000402937.1_Silent_p.I208I|NAGA_ENST00000403363.1_Silent_p.I208I	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	208					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGAGGTTGCAGATGTCCGCCA	0.572000													11	23					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86928348	86928348	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:86928348T>C	ENST00000376238.4	-	2	131	c.82A>G	c.(82-84)Aac>Gac	p.N28D	SLC28A3_ENST00000495823.1_5'UTR|SLC28A3_ENST00000537648.1_5'UTR	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	28					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTGTTCTCGTTCTCAAGAAAG	0.383000													32	37					0	0	1	0	0
KCTD20	222658	broad.mit.edu	37	6	36442577	36442577	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:36442577G>T	ENST00000373731.2	+	3	563	c.172G>T	c.(172-174)Gac>Tac	p.D58Y	KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000536244.1_Intron|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000544295.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	58						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						CCTCTCACTTGACTATGCCTC	0.398000													9	133					3.86212e-05	3.94406e-05	1	1	0
ACBD4	79777	broad.mit.edu	37	17	43213595	43213595	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:43213595G>A	ENST00000431281.1	+	4	553	c.84G>A	c.(82-84)aaG>aaA	p.K28K	ACBD4_ENST00000591859.1_Silent_p.K28K|ACBD4_ENST00000376955.4_Silent_p.K28K|ACBD4_ENST00000586346.1_Silent_p.K28K|ACBD4_ENST00000592162.1_Silent_p.K28K|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000321854.8_Silent_p.K28K|ACBD4_ENST00000398322.3_Silent_p.K28K	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	28	ACB.						fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						ACCTGCCCAAGAACGGTGAGG	0.577000													8	11					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102499629	102499629	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:102499629G>A	ENST00000360184.4	+	54	10385	c.10221G>A	c.(10219-10221)aaG>aaA	p.K3407K	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3407	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACATGTTAAAGAGAGTGGAGC	0.502000													39	43					0	0	1	0	0
PDK3	5165	broad.mit.edu	37	X	24483596	24483596	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:24483596G>A	ENST00000441463.2	+	1	24	c.24G>A	c.(22-24)ctG>ctA	p.L8L	PDK3_ENST00000379162.4_Silent_p.L8L	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	8					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGTGGCTGCTGAAGCAGCCGG	0.677000													8	24					0	0	1	0	0
NCF1	653361	broad.mit.edu	37	7	74193759	74193759	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:74193759C>T	ENST00000289473.4	+	4	456	c.386C>T	c.(385-387)aCg>aTg	p.T129M	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	129					cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						AAGCTCCCCACGGACAACCAG	0.582000													10	38					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72205846	72205846	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:72205846G>A	ENST00000555818.1	+	22	5731	c.5383G>A	c.(5383-5385)Gaa>Aaa	p.E1795K	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E1774K|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E1773K|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E1248K	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1795					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAGTTCACAGAATGGGTCTT	0.567000													18	48					0	0	1	0	0
CBR1	873	broad.mit.edu	37	21	37445054	37445054	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr21:37445054G>A	ENST00000290349.6	+	3	883	c.708G>A	c.(706-708)gcG>gcA	p.A236A	AP000688.14_ENST00000535199.1_RNA|SETD4_ENST00000399201.1_Intron|CBR1_ENST00000530908.1_3'UTR	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	236					drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding			endometrium(2)|kidney(3)	5					Acetohexamide(DB00414)|Lubiprostone(DB01046)	CTGACATGGCGGGACCCAAGG	0.572000													30	37					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45768087	45768087	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:45768087G>A	ENST00000357450.4	-	13	2143	c.2144C>T	c.(2143-2145)tCa>tTa	p.S715L	SMC1B_ENST00000404354.3_Missense_Mutation_p.S715L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	715					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCATTTTGTGAATATTTGAG	0.343000													33	26					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168277998	168277998	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:168277998C>G	ENST00000367821.3	+	7	986	c.935C>G	c.(934-936)tCa>tGa	p.S312*	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	312					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					ATAGAAAGCTCAAGCAATAAT	0.448000													24	139					0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18707710	18707710	+	Missense_Mutation	SNP	C	C	G	rs137853928		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:18707710C>G	ENST00000392386.3	-	5	1040	c.847G>C	c.(847-849)Gac>Cac	p.D283H		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	283	Fibronectin type-III 2.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						ACCTTCCAGTCCACACTGTCC	0.642000													8	26					0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41753197	41753197	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:41753197C>T	ENST00000359201.5	+	5	1090	c.501C>T	c.(499-501)atC>atT	p.I167I	PRICKLE4_ENST00000394260.1_Silent_p.I127I|PRICKLE4_ENST00000458694.1_Silent_p.I167I|PRICKLE4_ENST00000394259.1_Silent_p.I127I|PRICKLE4_ENST00000394263.1_Silent_p.I167I			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	127	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TAAACCTCATCTACTTCTACC	0.627000													18	24					0	0	1	0	0
XCL2	6846	broad.mit.edu	37	1	168511334	168511334	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:168511334C>T	ENST00000367819.2	-	2	105	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	25					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					TGTGAGACTTCACTCCCTACA	0.438000													57	27					0	0	1	0	0
POLR3H	171568	broad.mit.edu	37	22	41936731	41936731	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:41936731G>A	ENST00000355209.4	-	2	523	c.180C>T	c.(178-180)ttC>ttT	p.F60F	POLR3H_ENST00000420561.1_Intron|POLR3H_ENST00000407461.1_Silent_p.F60F|POLR3H_ENST00000396504.2_Silent_p.F60F|POLR3H_ENST00000337566.5_Silent_p.F60F	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	60					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CATCCCCAGGGAATACATAGG	0.498000													15	39					0	0	1	0	0
TMEM192	201931	broad.mit.edu	37	4	166024206	166024206	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:166024206G>A	ENST00000306480.6	-	2	215	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L	TMEM192_ENST00000506087.1_Silent_p.L20L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192							Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		TGGGCATCCAGAAGTGGGTCG	0.443000													30	65					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47937689	47937689	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:47937689C>T	ENST00000289672.2	-	14	2217	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	723	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGGAGCCCTTCAGAGTCCATC	0.547000													14	11					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193099330	193099330	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:193099330A>T	ENST00000367435.3	+	3	448	c.264A>T	c.(262-264)agA>agT	p.R88S		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	88					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGGTTAGAAGACCTGATCGAA	0.299000													45	31					0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56504454	56504454	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:56504454G>A	ENST00000303305.6	+	9	1239	c.820G>A	c.(820-822)Gat>Aat	p.D274N	PA2G4_ENST00000552766.1_Missense_Mutation_p.D274N|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	274					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AAGGCGTTTTGATGCCATGCC	0.443000													23	36					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1556998	1556998	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:1556998C>T	ENST00000262319.6	+	18	2451	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	724						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGCTGGTTCTCGGAAGGCTGG	0.652000													15	5					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43367196	43367196	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:43367196C>G	ENST00000290650.4	-	4	587	c.509G>C	c.(508-510)aGa>aCa	p.R170T	UBR1_ENST00000382177.2_Missense_Mutation_p.R170T	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	170					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGTACCTGCTCTTCCAGGTTC	0.353000													40	101					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3499315	3499315	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr18:3499315C>T	ENST00000315677.3	-	13	3397	c.2802G>A	c.(2800-2802)gaG>gaA	p.E934E	DLGAP1_ENST00000581699.1_Silent_p.E640E|DLGAP1_ENST00000584874.1_Silent_p.E934E|DLGAP1_ENST00000534970.1_Silent_p.E618E|DLGAP1_ENST00000539435.1_Silent_p.E642E|DLGAP1_ENST00000400150.3_Silent_p.E650E|DLGAP1_ENST00000400147.2_Silent_p.E632E|DLGAP1_ENST00000400155.1_Silent_p.E640E|DLGAP1_ENST00000400149.3_Silent_p.E624E	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	934					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCTGCGAGCTCTCCAGCGAGC	0.697000													3	5					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103130216	103130216	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:103130216T>C	ENST00000424685.2	-	60	9895	c.9736A>G	c.(9736-9738)Atc>Gtc	p.I3246V	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.I3246V|RELN_ENST00000343529.5_Missense_Mutation_p.I3246V			P78509	RELN_HUMAN	reelin	3246	EGF-like 8.				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)		CAGATGCAGATGGCACCGGTC	0.512000													12	25					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84506897	84506897	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:84506897C>T	ENST00000286744.5	+	7	881	c.657C>T	c.(655-657)gtC>gtT	p.V219V	ADAMTSL3_ENST00000567476.1_Silent_p.V219V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	219						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)			ACTGTGGAGTCTGTGCCGGCG	0.537000													28	35					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38135241	38135241	+	Silent	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:38135241G>C	ENST00000308059.6	+	12	1923	c.1902G>C	c.(1900-1902)ctG>ctC	p.L634L	DLEC1_ENST00000346219.3_Silent_p.L634L|DLEC1_ENST00000452631.2_Silent_p.L634L			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	634					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GGAAGCAGCTGATTATTAGAA	0.522000													11	138					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38869206	38869206	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:38869206A>G	ENST00000487273.2	+	3	303	c.225A>G	c.(223-225)aaA>aaG	p.K75K	ADAM9_ENST00000481513.1_Silent_p.K75K|ADAM9_ENST00000466936.1_Silent_p.K75K	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	75				Missing (in Ref. 2; no nucleotide entry).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTGAAGGAAAAGAGCATATTA	0.279000													74	59					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125600039	125600039	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:125600039C>T	ENST00000504087.1	-	3	1571	c.534G>A	c.(532-534)ctG>ctA	p.L178L	ANKRD50_ENST00000515641.1_5'UTR	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	178										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCTTCATTCCCAGAAGAGGGA	0.388000													47	28					0	0	1	0	0
NUDT12	83594	broad.mit.edu	37	5	102894688	102894688	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:102894688G>C	ENST00000230792.2	-	3	784	c.688C>G	c.(688-690)Cta>Gta	p.L230V	NUDT12_ENST00000507423.1_Missense_Mutation_p.L212V	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	230						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TCTATACCTAGAGCAAACCAG	0.388000													39	30					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44791464	44791464	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:44791464C>T	ENST00000291182.4	-	5	2226	c.2124G>A	c.(2122-2124)gaG>gaA	p.E708E	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TGTAAGGCCTCTCTCCAGTGT	0.502000													22	67					0	0	1	0	0
CENPU	79682	broad.mit.edu	37	4	185652115	185652115	+	Missense_Mutation	SNP	G	G	C	rs148908002	byFrequency	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:185652115G>C	ENST00000281453.5	-	2	125	c.55C>G	c.(55-57)Cgt>Ggt	p.R19G	MLF1IP_ENST00000541971.1_Missense_Mutation_p.R19G	NM_024629.3	NP_078905.2	Q71F23	CENPU_HUMAN		19					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		TTCTTTGAACGTCTTGCGCTA	0.323000													5	65					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83606467	83606467	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:83606467G>A	ENST00000265362.4	-	15	2012	c.1698C>T	c.(1696-1698)caC>caT	p.H566H	SEMA3A_ENST00000436949.1_Silent_p.H566H	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						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						AGTCTGAACAGTGAGTCAGTG	0.363000													20	59					0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69749756	69749756	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:69749756C>T	ENST00000395889.2	-	30	2814	c.2659G>A	c.(2659-2661)Gaa>Aaa	p.E887K	TEX11_ENST00000374333.2_Missense_Mutation_p.E872K|TEX11_ENST00000344304.3_Missense_Mutation_p.E887K|TEX11_ENST00000374320.2_Missense_Mutation_p.E562K	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	887							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CACCACTTTTCAGCAGATGCA	0.473000													16	46					0	0	1	0	0
SAMD1	90378	broad.mit.edu	37	19	14199905	14199905	+	Silent	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:14199905T>A	ENST00000533683.2	-	2	1193	c.906A>T	c.(904-906)gcA>gcT	p.A302A		NM_138352.1	NP_612361	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	408						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		TGTTCATGGCTGCCATGGAGA	0.642000													12	18					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58440657	58440657	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:58440657C>T	ENST00000357552.3	-	43	4654	c.4429G>A	c.(4429-4431)Gat>Aat	p.D1477N	SYCP2_ENST00000371001.2_Missense_Mutation_p.D1477N			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1477					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)			TCTTCACTATCAGTATTACAG	0.269000													36	47					0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103167667	103167667	+	Splice_Site	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:103167667G>T	ENST00000262241.6	+	4	724	c.498G>T	c.(496-498)caG>caT	p.Q166H	RCOR1_ENST00000570597.1_Splice_Site_p.Q163H	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	163	ELM2.|Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACATGGAACAGGTAATATCAT	0.323000													28	37					2.4375e-19	2.59453e-19	1	1	0
KIF1B	23095	broad.mit.edu	37	1	10425497	10425497	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:10425497C>T	ENST00000377086.1	+	43	4745	c.4543C>T	c.(4543-4545)Cgt>Tgt	p.R1515C	KIF1B_ENST00000377081.1_Missense_Mutation_p.R1515C|KIF1B_ENST00000263934.6_Missense_Mutation_p.R1469C			O60333	KIF1B_HUMAN	kinesin family member 1B	1515					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TTTGCTGCTGCGTGAGAGACT	0.502000													11	29					0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169824963	169824963	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:169824963T>A	ENST00000367772.4	-	12	1645	c.1448A>T	c.(1447-1449)gAt>gTt	p.D483V	SCYL3_ENST00000367771.6_Intron|SCYL3_ENST00000367770.1_Missense_Mutation_p.D483V	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	483					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTGTAGTAATCTCGCTGTAT	0.388000													10	52					0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37591747	37591747	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:37591747T>C	ENST00000284437.6	+	3	248	c.70T>C	c.(70-72)Tat>Cat	p.Y24H	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.Y24H	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	24										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CTCTCCTGGCTATGTCAATGA	0.433000													181	264					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196602742	196602742	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:196602742G>A	ENST00000312428.6	-	65	12078	c.11978C>T	c.(11977-11979)tCc>tTc	p.S3993F	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Missense_Mutation_p.S476F	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3993					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAAATTCGTGGAATGGCCAGT	0.453000													26	5					0	0	1	0	0
CLN5	1203	broad.mit.edu	37	13	77566269	77566269	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr13:77566269G>A	ENST00000377453.3	+	1	1475	c.183G>A	c.(181-183)gaG>gaA	p.E61E	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	12					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AGGGCGCCGAGATgcggcggg	0.741000													7	8					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933151	39933151	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:39933151G>A	ENST00000342274.4	-	4	1810	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L	BCOR_ENST00000378455.4_Missense_Mutation_p.P483L|BCOR_ENST00000378444.4_Missense_Mutation_p.P483L|BCOR_ENST00000397354.3_Missense_Mutation_p.P483L	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	483					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTTTCTTTCGGAATCTCACT	0.517000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						26	24					0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241798390	241798390	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:241798390T>C	ENST00000366553.1	-	1	842	c.679A>G	c.(679-681)Agg>Ggg	p.R227G	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	227					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTAAACCTCCTGCCTTCTTTA	0.313000													13	116					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96131798	96131798	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:96131798T>C	ENST00000343702.4	-	3	1158	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	NTN4_ENST00000538383.1_Missense_Mutation_p.Q200R|NTN4_ENST00000552603.1_5'UTR|NTN4_ENST00000553059.1_Missense_Mutation_p.Q237R|NTN4_ENST00000344911.4_Missense_Mutation_p.Q200R	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	237	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTCATTTCTCTGACAGGGACA	0.478000													14	61					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315765	30315765	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:30315765C>T	ENST00000375377.1	-	3	3413	c.3312G>A	c.(3310-3312)cgG>cgA	p.R1104R		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1104										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTCCCGCTCTCCGGATGCCCG	0.632000													19	75					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656864	46656864	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:46656864G>A	ENST00000544460.1	+	1	1253	c.999G>A	c.(997-999)gaG>gaA	p.E333E	TDRD6_ENST00000316081.6_Silent_p.E333E	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	333	Tudor 2.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTTGCTTGAGACTTTTCGGC	0.567000													22	26					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90144581	90144581	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:90144581C>G	ENST00000405460.2	+	79	17243	c.17147C>G	c.(17146-17148)aCt>aGt	p.T5716S	GPR98_ENST00000425867.2_Missense_Mutation_p.T1377S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5716					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCTGAAGTGACTGAGAATTTT	0.388000													8	43					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102563678	102563678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:102563678G>A	ENST00000260229.4	-	9	1379	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	430	Hemopexin-like 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCTTTGTACTGGAAAGCAGCA	0.403000													97	75					0	0	1	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436354	113436354	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:113436354G>A	ENST00000313341.3	-	2	604	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	93					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GACGGCCCGCGCCCGGGAAGG	0.721000													20	10					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45901567	45901567	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:45901567C>T	ENST00000418234.2	-	2	88	c.10G>A	c.(10-12)Gag>Aag	p.E4K	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E4K	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	4					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGGAATGCCTCGCTGTCCATG	0.697000													6	23					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31856452	31856452	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:31856452C>T	ENST00000543095.2	-	8	1247	c.1063G>A	c.(1063-1065)Gtc>Atc	p.V355I	HEATR5A_ENST00000389961.3_Missense_Mutation_p.V349I|HEATR5A_ENST00000404677.3_Missense_Mutation_p.V355I|HEATR5A_ENST00000439348.1_Missense_Mutation_p.V349I|HEATR5A_ENST00000439727.1_Missense_Mutation_p.V62I	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	349							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGACAGCAGACGGCATCGATC	0.463000													29	23					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64023902	64023902	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:64023902C>T	ENST00000540288.1	+	9	856	c.753C>T	c.(751-753)aaC>aaT	p.N251N	PLCB3_ENST00000325234.5_Silent_p.N184N|PLCB3_ENST00000279230.6_Silent_p.N251N	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	251					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ACTTCATCAACCAGAAGCAAC	0.627000													43	40					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26531971	26531971	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:26531971T>C	ENST00000333478.6	-	12	3187	c.2605A>G	c.(2605-2607)Aca>Gca	p.T869A	GPR113_ENST00000541401.1_Missense_Mutation_p.T671A|GPR113_ENST00000459892.1_5'UTR	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	0					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGCATCTGTCTTCCTGTGA	0.567000													67	167					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	304648	304648	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:304648C>T	ENST00000419235.2	+	2	120	c.42C>T	c.(40-42)atC>atT	p.I14I	DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000344450.5_Silent_p.I14I|DUSP22_ENST00000605035.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	14					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCCTGTACATCGGCAACTTCA	0.438000													27	147					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38035413	38035413	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:38035413G>A	ENST00000283713.6	+	3	351	c.85G>A	c.(85-87)Gag>Aag	p.E29K	VILL_ENST00000383759.2_Missense_Mutation_p.E29K			O15195	VILL_HUMAN	villin-like	29					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCCGGTACCCGAGGGGGCTTA	0.597000													11	177					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66189988	66189988	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:66189988C>T	ENST00000311034.2	+	3	570	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	132	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTCACTGTGCGCCAGCAACT	0.587000													13	44					0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482031	39482031	+	RNA	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:39482031C>T	ENST00000513652.1	+	0	157																											CCCGGCCCTCCGCAGCAGCCC	0.647000													4	16					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241803419	241803419	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:241803419C>T	ENST00000366554.2	-	1	244	c.138G>A	c.(136-138)ctG>ctA	p.L46L	OPN3_ENST00000331838.5_Silent_p.L46L|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	46					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AGCCCAGCAGCAGCGCCAGGC	0.736000													25	12					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062301	76062301	+	Translation_Start_Site	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:76062301G>A	ENST00000416245.1	+	0	1054				ZP3_ENST00000394857.3_Silent_p.T163T|ZP3_ENST00000336517.4_Silent_p.T112T			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)						binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TCAGGACCACGGTGTTCTCAG	0.572000													8	20					0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13701464	13701464	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:13701464C>T	ENST00000357447.2	-	21	2293	c.1925G>A	c.(1924-1926)gGa>gAa	p.G642E	FRMD4A_ENST00000358621.4_Missense_Mutation_p.G627E|FRMD4A_ENST00000378503.1_Missense_Mutation_p.G642E	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	642	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CGCACAGCTTCCTGTGCTGGG	0.642000													35	38					0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25256724	25256724	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:25256724C>G	ENST00000264864.6	+	3	650	c.461C>G	c.(460-462)cCt>cGt	p.P154R	PI4K2B_ENST00000512921.1_Missense_Mutation_p.P58R	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	154	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				TCAGAAGAGCCTTATGGTCAA	0.368000													26	50					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156828926	156828926	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:156828926G>A	ENST00000536354.2	+	4	349	c.285G>A	c.(283-285)gaG>gaA	p.E95E		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	95					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CTGTTCGAGAGATCTTTCAGA	0.333000													28	57					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279767	152279767	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:152279767G>A	ENST00000368799.1	-	3	7630	c.7595C>T	c.(7594-7596)tCg>tTg	p.S2532L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2532	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			ATGGTGACGCGACCCTGAGTG	0.597000									Ichthyosis				59	486					0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39780125	39780125	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:39780125C>G	ENST00000518237.1	+	6	1131	c.492C>G	c.(490-492)ttC>ttG	p.F164L	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.F164L	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	164					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	AAGGATTCTTCCTGGTCTCTC	0.388000													8	17					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81585360	81585360	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:81585360C>T	ENST00000394660.2	+	12	2244	c.1884C>T	c.(1882-1884)acC>acT	p.T628T	IL16_ENST00000302987.4_Silent_p.T628T	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	628					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CTGGGCACACCCCACCCACCT	0.502000													17	9					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302894	163302894	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:163302894G>C	ENST00000332142.5	-	7	1287	c.1188C>G	c.(1186-1188)aaC>aaG	p.N396K	KCNH7_ENST00000328032.4_Missense_Mutation_p.N389K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	396					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCGTAAACTTGTTGATGCGTG	0.428000													6	122					0	0	1	0	0
H1F0	3005	broad.mit.edu	37	22	38201565	38201565	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:38201565C>T	ENST00000340857.2	+	1	452	c.14C>T	c.(13-15)tCc>tTc	p.S5F		NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	5					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					ACCGAGAATTCCACGTCCGCC	0.637000													40	43					0	0	1	0	0
PITX3	5309	broad.mit.edu	37	10	103990819	103990819	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:103990819C>T	ENST00000370002.3	-	4	514	c.361G>A	c.(361-363)Gag>Aag	p.E121K	PITX3_ENST00000539804.1_Missense_Mutation_p.E121K	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	121					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGGCTGCGCTCGCGCTTCCGC	0.721000													4	9					0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24041062	24041062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:24041062G>A	ENST00000397118.3	-	5	2121	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	JPH4_ENST00000544177.1_Nonsense_Mutation_p.R72*|JPH4_ENST00000356300.4_Nonsense_Mutation_p.R407*	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	407					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TTGGCCATTCGAGCTGCCTCC	0.632000													22	23					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19971995	19971995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:19971995G>T	ENST00000379687.3	-	5	1499	c.1466C>A	c.(1465-1467)tCa>tAa	p.S489*	CXorf23_ENST00000356980.3_Nonsense_Mutation_p.S489*|CXorf23_ENST00000379682.4_Nonsense_Mutation_p.S489*	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	489						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AATGCCAGGTGATGGAAAATA	0.328000													30	31					3.99451e-17	4.23962e-17	1	1	0
NSD1	64324	broad.mit.edu	37	5	176722164	176722164	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:176722164T>G	ENST00000439151.2	+	23	7840	c.7795T>G	c.(7795-7797)Tct>Gct	p.S2599A	NSD1_ENST00000361032.4_Missense_Mutation_p.S2496A|NSD1_ENST00000347982.4_Missense_Mutation_p.S2330A|NSD1_ENST00000354179.4_Missense_Mutation_p.S2330A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2599					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GAGTGGGCAATCTTTTAGGTC	0.597000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			11	31					0	0	1	0	0
TMOD2	29767	broad.mit.edu	37	15	52074917	52074917	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:52074917G>A	ENST00000249700.4	+	7	845		c.e7-1		TMOD2_ENST00000539962.2_Splice_Site|TMOD2_ENST00000435126.2_Intron	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)						nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		CTCTGTCTTAGAACATTCCAA	0.468000													43	41					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101699774	101699774	+	Silent	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:101699774A>T	ENST00000261637.4	+	16	2037	c.1863A>T	c.(1861-1863)ccA>ccT	p.P621P		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	621					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)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCAAAGGGCCACTTTCCCAGG	0.443000													15	142					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108921320	108921320	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:108921320C>T	ENST00000340800.2	-	9	1454	c.950G>A	c.(949-951)gGc>gAc	p.G317D	ACSL4_ENST00000348502.6_Missense_Mutation_p.G276D|ACSL4_ENST00000469796.2_Missense_Mutation_p.G317D	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	317					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AGGCAAGTAGCCAATATATGT	0.373000													27	79					0	0	1	0	0
RTN4R	65078	broad.mit.edu	37	22	20229604	20229604	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:20229604C>T	ENST00000043402.7	-	2	1490	c.1052G>A	c.(1051-1053)aGa>aAa	p.R351K		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	351					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					CGAAGCTGGTCTTCCAGGCTC	0.667000													39	80					0	0	1	0	0
TMED5	50999	broad.mit.edu	37	1	93645745	93645745	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:93645745G>A	ENST00000370282.3	-	1	540	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	CCDC18_ENST00000343253.7_5'UTR|TMED5_ENST00000479918.1_Missense_Mutation_p.P19S|TMED5_ENST00000370280.1_Missense_Mutation_p.P19S	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	19					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		AGCAGCACCGGAGGCAGAGCG	0.647000													19	21					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10402358	10402358	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:10402358G>C	ENST00000226207.5	-	29	4011	c.3917C>G	c.(3916-3918)tCg>tGg	p.S1306W	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1306			S -> L (in a breast cancer sample; somatic mutation).			muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.S1306L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTGCCCCTCGAGAGCTGTGA	0.398000													18	84					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21343449	21343449	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr18:21343449G>A	ENST00000313654.9	+	8	1385	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S	LAMA3_ENST00000399516.3_Missense_Mutation_p.G382S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	382	Domain V.|Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAATACCCAGGGCATCTATGC	0.463000													44	55					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121699834	121699834	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:121699834C>T	ENST00000393386.2	+	29	7110	c.6699C>T	c.(6697-6699)ttC>ttT	p.F2233F	PTPRZ1_ENST00000449182.1_Silent_p.F1366F	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2233	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAGGAACTTTCTGTGCTCTGA	0.423000													71	91					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134212789	134212789	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:134212789G>T	ENST00000535456.2	+	2	416	c.228G>T	c.(226-228)gaG>gaT	p.E76D	GLB1L2_ENST00000389881.3_Missense_Mutation_p.E76D|GLB1L2_ENST00000339772.7_Missense_Mutation_p.E76D	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	76					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TGCCCAGGGAGTACTGGAGGG	0.617000													4	80					0.00909568	0.00914525	1	1	0
TKTL1	8277	broad.mit.edu	37	X	153541021	153541021	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:153541021C>A	ENST00000369915.3	+	6	950	c.761C>A	c.(760-762)aCc>aAc	p.T254N	TKTL1_ENST00000369912.2_Missense_Mutation_p.T198N|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	254					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGATACAGACCAGCAGGAAT	0.463000													12	62					1.08611e-07	1.12577e-07	1	1	0
PCBP1	5093	broad.mit.edu	37	2	70315671	70315671	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:70315671G>A	ENST00000303577.5	+	1	1087	c.796G>A	c.(796-798)Gag>Aag	p.E266K	PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	266					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CAGCTCTCCAGAGGTGAAAGG	0.522000													24	107					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91993855	91993855	+	Missense_Mutation	SNP	G	G	A	rs141440756		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:91993855G>A	ENST00000450295.1	-	16	3129	c.2353C>T	c.(2353-2355)Cgt>Tgt	p.R785C	SEMA4D_ENST00000422704.2_Missense_Mutation_p.R785C|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.R785C|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.R785C|SEMA4D_ENST00000343780.4_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	785					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTCTGCTCACGGTCACAGAAA	0.542000													17	22					0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24602013	24602013	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:24602013C>T	ENST00000267426.5	+	2	1149	c.860C>T	c.(859-861)tCc>tTc	p.S287F	FITM1_ENST00000559294.1_Missense_Mutation_p.S91F	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	287					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CGTCCCCACTCCAGCCGCAAG	0.582000													6	45					0	0	1	0	0
UAP1L1	91373	broad.mit.edu	37	9	139974501	139974501	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:139974501C>G	ENST00000409858.3	+	6	1117	c.1085C>G	c.(1084-1086)cCg>cGg	p.P362R	UAP1L1_ENST00000360271.3_Missense_Mutation_p.P239R	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	362							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AAGAAGGTCCCGTATGTGGAT	0.507000													51	61					0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19132084	19132084	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:19132084C>G	ENST00000252137.6	-	1	113	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	24					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)					TCTCCCGCCTCGCGCTTCCTC	0.677000													9	21					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616479	116616479	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:116616479T>C	ENST00000395715.3	-	4	2294	c.1717A>G	c.(1717-1719)Acc>Gcc	p.T573A	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.T564A|TRPS1_ENST00000519674.1_Missense_Mutation_p.T560A|TRPS1_ENST00000220888.5_Missense_Mutation_p.T560A	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	560					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGTTTAATGGTACACTTGTGA	0.428000									Langer-Giedion syndrome				16	94					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60749515	60749515	+	Splice_Site	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:60749515T>C	ENST00000303375.5	+	8	1863		c.e8+2			NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2						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						TGGGGCCCGGTGAGATCTCCC	0.582000													62	23					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108872101	108872101	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:108872101T>A	ENST00000329106.2	+	4	473	c.473T>A	c.(472-474)aTg>aAg	p.M158K	SULT1C3_ENST00000376700.1_Missense_Mutation_p.M158K	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	158						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GCTTCCTTTATGCCTGATCCT	0.438000													71	49					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37653050	37653050	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:37653050G>A	ENST00000378588.4	+	5	537	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	CYBB_ENST00000545017.1_Missense_Mutation_p.R125Q|CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	157	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	p.R157Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						AATTTTGCTCGAAAGAGAATA	0.398000													42	33					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14317419	14317419	+	Splice_Site	SNP	A	A	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:14317419A>C	ENST00000545643.1	-	2	422	c.109T>G	c.(109-111)Ttt>Gtt	p.F37V	RRAS2_ENST00000534746.1_Intron|RRAS2_ENST00000526063.1_Intron|RRAS2_ENST00000256196.4_Intron|RRAS2_ENST00000532814.1_Intron|RRAS2_ENST00000529237.1_Intron|RRAS2_ENST00000537760.1_Intron	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	36						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAAAGAAAAAACTTTATTTTA	0.443000													31	24					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035587	56035587	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:56035587C>T	ENST00000244728.5	-	5	1283	c.886G>A	c.(886-888)Gat>Aat	p.D296N	COL21A1_ENST00000370819.1_Missense_Mutation_p.D296N|COL21A1_ENST00000535941.1_Missense_Mutation_p.D296N	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	296	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTCCATAAATCCCAAATTTTC	0.328000													6	22					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3736305	3736305	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:3736305G>A	ENST00000541714.2	+	11	1732	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	TJP3_ENST00000262968.9_Missense_Mutation_p.D457N|TJP3_ENST00000587686.1_Missense_Mutation_p.D443N|TJP3_ENST00000382008.3_Missense_Mutation_p.D438N|TJP3_ENST00000539908.2_Missense_Mutation_p.D388N|TJP3_ENST00000589378.1_Missense_Mutation_p.D433N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	438	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGAGGGAGATCAGATTCT	0.682000													5	5					0	0	1	0	0
AGO4	192670	broad.mit.edu	37	1	36307064	36307064	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:36307064G>A	ENST00000373210.3	+	14	2268	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		AGGGGTATCTGAGGGACAAAT	0.502000													25	46					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56483338	56483338	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:56483338C>G	ENST00000370765.6	-	23	5601	c.5494G>C	c.(5494-5496)Gag>Cag	p.E1832Q	DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1243					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTCATCCTCAAGTTTCTGA	0.403000													47	166					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522290	97522290	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:97522290G>A	ENST00000375315.2	+	1	225	c.225G>A	c.(223-225)ggG>ggA	p.G75G	C9orf3_ENST00000297979.5_Silent_p.G75G|C9orf3_ENST00000277198.2_Silent_p.G75G	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	75					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCAAATTTGGGATGCCTGAAC	0.403000													33	49					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204304303	204304303	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:204304303G>A	ENST00000319170.5	-	14	3909	c.3610C>T	c.(3610-3612)Cca>Tca	p.P1204S	RAPH1_ENST00000374493.3_Missense_Mutation_p.P1256S|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1204					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGGGTGGTGGAGGCAATGCC	0.567000													10	13					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540615	169540615	+	Silent	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:169540615G>C	ENST00000340806.6	+	1	906	c.906G>C	c.(904-906)ctG>ctC	p.L302L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	302										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCAGGTGCCTGGTCAACTTGC	0.597000													21	34					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1268660	1268660	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:1268660G>C	ENST00000310581.5	-	9	2614	c.2557C>G	c.(2557-2559)Ctg>Gtg	p.L853V	TERT_ENST00000334602.6_Missense_Mutation_p.L853V|TERT_ENST00000508104.2_Missense_Mutation_p.A792G|TERT_ENST00000296820.5_Missense_Mutation_p.A792G	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	853	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCGCAAACAGCTTGTTCTCC	0.607000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				38	27					0	0	1	0	0
HSD17B10	3028	broad.mit.edu	37	X	53459339	53459339	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:53459339C>T	ENST00000168216.6	-	3	240	c.213G>A	c.(211-213)gtG>gtA	p.V71V	HSD17B10_ENST00000495986.1_5'UTR|HSD17B10_ENST00000375304.5_Silent_p.V71V|HSD17B10_ENST00000375298.4_Silent_p.V71V	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	71					branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8					NADH(DB00157)	GAGCTGTTTGCACATCCTTCT	0.522000													14	36					0	0	1	0	0
FBXO32	114907	broad.mit.edu	37	8	124553195	124553195	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:124553195G>A	ENST00000517956.1	-	1	251	c.60C>T	c.(58-60)gaC>gaT	p.D20D	FBXO32_ENST00000443022.2_Silent_p.D20D	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	20										autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTTCCAGCCGTCGGCCGTCT	0.672000													23	43					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179291116	179291116	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:179291116C>T	ENST00000356834.3	-	22	3122	c.3085G>A	c.(3085-3087)Gag>Aag	p.E1029K	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.E188K|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.E170K|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E1012K|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1029						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCACAGCTCAATGAACTGC	0.527000													15	13					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52782081	52782081	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:52782081C>T	ENST00000245457.5	+	1	969	c.815C>T	c.(814-816)aCc>aTc	p.T272I	PTGER2_ENST00000557436.1_Missense_Mutation_p.T17I	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	272						integral to plasma membrane	prostaglandin E receptor activity	p.T272I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	ATGACCATCACCTTCGCCGTC	0.647000													26	20					0	0	1	0	0
CCDC14	64770	broad.mit.edu	37	3	123667914	123667914	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:123667914C>T	ENST00000488653.2	-	6	652	c.562G>A	c.(562-564)Gac>Aac	p.D188N	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_5'UTR|CCDC14_ENST00000485727.1_5'UTR|CCDC14_ENST00000310351.4_Missense_Mutation_p.D28N|CCDC14_ENST00000433542.2_Missense_Mutation_p.D147N			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	188						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TGCTCTAGGTCTGATGTGTCT	0.378000													15	9					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33777943	33777943	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:33777943G>A	ENST00000354992.2	-	10	1664	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	LARGE_ENST00000437602.2_Missense_Mutation_p.R365C|LARGE_ENST00000452586.2_Missense_Mutation_p.R164C|LARGE_ENST00000397394.2_Missense_Mutation_p.R365C|LARGE_ENST00000402320.1_Missense_Mutation_p.R365C|LARGE_ENST00000337431.2_Missense_Mutation_p.R365C	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	365					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TGCTCGGAGCGGGTGTGGTCT	0.552000													9	65					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277297	95277297	+	Missense_Mutation	SNP	T	T	C	rs13298061		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:95277297T>C	ENST00000344604.5	-	4	819	c.670A>G	c.(670-672)Aca>Gca	p.T224A	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.T202A	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	224					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTTTGCTCTGTATCTTCTTCT	0.478000													99	149					0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133451530	133451530	+	Translation_Start_Site	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:133451530A>T	ENST00000520958.1	+	0	230				TCF7_ENST00000432532.2_Intron|TCF7_ENST00000321584.4_Intron|TCF7_ENST00000321603.6_Intron|TCF7_ENST00000342854.5_Intron|TCF7_ENST00000395029.1_Intron|TCF7_ENST00000378560.4_Intron|TCF7_ENST00000395023.1_Intron|TCF7_ENST00000378564.1_Intron|TCF7_ENST00000518915.1_Intron			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)						cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTTTCTCTCAAGAGCAGACA	0.592000													15	9					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96091468	96091468	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:96091468C>G	ENST00000453304.1	-	15	2815	c.2467G>C	c.(2467-2469)Gat>Cat	p.D823H		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	823					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AGCGGCAAATCGATGCCAGTA	0.512000													4	120					0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21321406	21321406	+	Silent	SNP	C	C	G	rs6113197		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:21321406C>G	ENST00000377191.3	+	15	1421	c.1326C>G	c.(1324-1326)gcC>gcG	p.A442A	XRN2_ENST00000430571.2_Silent_p.A366A|XRN2_ENST00000539513.1_Silent_p.A388A	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	442					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CTCCTCATGCCTTGGGTTCAA	0.378000													28	111					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769008	140769008	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:140769008C>A	ENST00000519479.1	+	1	1557	c.1557C>A	c.(1555-1557)gaC>gaA	p.D519E	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTTCGACCACGAGCAGC	0.662000													14	73					7.93312e-07	8.1845e-07	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208206823	208206823	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:208206823G>A	ENST00000367033.3	-	28	5653	c.4896C>T	c.(4894-4896)gaC>gaT	p.D1632D		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1632					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACCGCAGGCTGTCGGGGCTGC	0.592000													6	26					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47832234	47832234	+	Silent	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:47832234T>C	ENST00000289672.2	-	56	8567	c.8517A>G	c.(8515-8517)caA>caG	p.Q2839Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2839					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCTCAGCAGCTTGGTAACTAG	0.388000													25	64					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842008	8842008	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:8842008C>T	ENST00000324060.2	+	1	693	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGTGCTGATCCTAATGCTCC	0.572000													41	58					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35632862	35632862	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:35632862G>A	ENST00000353139.5	-	8	1364	c.883C>T	c.(883-885)Ctt>Ttt	p.L295F	ACACA_ENST00000360679.3_Missense_Mutation_p.L200F|ACACA_ENST00000394406.2_Missense_Mutation_p.L258F|ACACA_ENST00000335166.5_Missense_Mutation_p.L180F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	258	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCCAGGGAAGAGTTGGGATA	0.433000													33	42					0	0	1	0	0
CCDC117	150275	broad.mit.edu	37	22	29176964	29176964	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:29176964G>T	ENST00000249064.4	+	3	444	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	CCDC117_ENST00000448492.2_Nonsense_Mutation_p.E72*|CCDC117_ENST00000443309.2_5'UTR|CCDC117_ENST00000421503.2_Intron	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	90										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						AAGGATAACTGAAGCAGAGCT	0.378000													8	48					0.00307968	0.00311343	1	1	0
TPM4	7171	broad.mit.edu	37	19	16192852	16192852	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:16192852G>A	ENST00000300933.4	+	2	522	c.262G>A	c.(262-264)Gag>Aag	p.E88K	TPM4_ENST00000538887.1_Missense_Mutation_p.E124K|TPM4_ENST00000344824.6_Missense_Mutation_p.E124K	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	88					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						AGATGAGAGTGAGAGGTAAGG	0.542000			T	ALK	ALCL								11	15					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12568995	12568995	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:12568995A>C	ENST00000358136.3	+	70	13214	c.13084A>C	c.(13084-13086)Aac>Cac	p.N4362H	VPS13D_ENST00000543766.1_Missense_Mutation_p.N360H|VPS13D_ENST00000543710.1_Missense_Mutation_p.N166H|VPS13D_ENST00000471923.1_Missense_Mutation_p.N18H|VPS13D_ENST00000356315.4_Missense_Mutation_p.N4337H|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4361					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAAGAAATAAACTACGCAAA	0.507000													25	85					0	0	1	0	0
GOLGA8A	23015	broad.mit.edu	37	15	34673718	34673718	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:34673718A>G	ENST00000543376.1	-	23	4031	c.1277T>C	c.(1276-1278)gTg>gCg	p.V426A	GOLGA8A_ENST00000432566.2_Missense_Mutation_p.V599A|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.V569A|GOLGA8A_ENST00000359187.4_Missense_Mutation_p.V569A			A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	597						Golgi cisterna membrane							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		AAGGAGCTGCACGACTGGCTG	0.592000													31	99					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44566429	44566429	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:44566429C>T	ENST00000541738.1	-	6	945	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	PREPL_ENST00000378520.3_Missense_Mutation_p.E276K|PREPL_ENST00000378511.3_Missense_Mutation_p.E276K|PREPL_ENST00000409272.1_Missense_Mutation_p.E276K|PREPL_ENST00000410081.1_Missense_Mutation_p.E276K|PREPL_ENST00000409936.1_Missense_Mutation_p.E276K|PREPL_ENST00000260648.6_Missense_Mutation_p.E276K|PREPL_ENST00000409411.1_Missense_Mutation_p.E187K|PREPL_ENST00000409957.1_Missense_Mutation_p.E187K	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	276					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AACCACACTTCAGAAGTAGTC	0.413000													68	42					0	0	1	0	0
LUZP4	51213	broad.mit.edu	37	X	114541341	114541341	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:114541341C>G	ENST00000371920.3	+	4	921	c.914C>G	c.(913-915)tCa>tGa	p.S305*	LUZP4_ENST00000451986.2_Nonsense_Mutation_p.S223*	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	305						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CAGAGATACTCAACAGGTAAA	0.358000													25	76					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141244601	141244601	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:141244601C>T	ENST00000287008.3	-	3	1442	c.1295G>A	c.(1294-1296)tGt>tAt	p.C432Y	PCDH1_ENST00000394536.3_Missense_Mutation_p.C432Y|PCDH1_ENST00000456271.1_Missense_Mutation_p.C420Y|PCDH1_ENST00000536585.1_Missense_Mutation_p.C410Y|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	432	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGCCACCACACAGGTGACAGC	0.577000													26	61					0	0	1	0	0
EDN2	1907	broad.mit.edu	37	1	41945093	41945093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:41945093C>T	ENST00000372587.4	-	5	593	c.524G>A	c.(523-525)tGg>tAg	p.W175*	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	175					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTCTTCCTCCACCTGGAATG	0.582000													6	24					0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32634316	32634316	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:32634316C>T	ENST00000399084.1	-	2	247	c.69G>A	c.(67-69)gcG>gcA	p.A23A	HLA-DQB1_ENST00000434651.2_Silent_p.A23A|HLA-DQB1_ENST00000399082.3_Silent_p.A23A|HLA-DQB1_ENST00000399079.3_Silent_p.A23A|HLA-DQB1_ENST00000374943.4_Silent_p.A23A			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	23			A -> S (in allele DQB1*02:01 and allele DQB1*02:02; dbSNP:rs3891176).		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 membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCTCAGCATCGCCAGCATCA	0.582000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				20	3					0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27599575	27599575	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:27599575G>A	ENST00000233575.2	+	15	1624	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	SNX17_ENST00000543024.1_Missense_Mutation_p.E254K|SNX17_ENST00000537606.1_Missense_Mutation_p.E443K|SNX17_ENST00000542478.1_Missense_Mutation_p.E254K	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	468					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTGGAGATGAGGATCTGTA	0.567000													44	23					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100608331	100608331	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:100608331T>A	ENST00000308731.7	-	18	1922	c.1759A>T	c.(1759-1761)Atg>Ttg	p.M587L	BTK_ENST00000372880.1_Missense_Mutation_p.M411L	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	587	Protein kinase.		M -> L (in XLA; mild).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATTTCCCACATCAAAACCCCT	0.423000									Agammaglobulinemia, X-linked				7	130					0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58921357	58921357	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:58921357C>T	ENST00000306910.4	+	2	591	c.68C>T	c.(67-69)aCg>aTg	p.T23M	ZNF584_ENST00000593920.1_Intron|ZNF584_ENST00000599238.1_Intron|ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000322834.7_Missense_Mutation_p.T15M|ZNF584_ENST00000596281.1_Intron	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		GAGGATGTGACGGTATATTTC	0.498000													35	53					0	0	1	0	0
RELB	5971	broad.mit.edu	37	19	45535910	45535910	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:45535910G>A	ENST00000221452.8	+	9	1260	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	RELB_ENST00000505236.1_Silent_p.E367E|RELB_ENST00000540120.1_Silent_p.E370E	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	370	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		AGGACCTGGAGATTGTCGAGC	0.622000													5	8					0	0	1	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154524587	154524587	+	Silent	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:154524587T>C	ENST00000292211.4	-	8	1027	c.948A>G	c.(946-948)ctA>ctG	p.L316L		NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	316							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAAAGTTAAGTAGAATGAAGT	0.498000													29	126					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124266728	124266728	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:124266728G>C	ENST00000395571.3	-	3	2076	c.1459C>G	c.(1459-1461)Cag>Gag	p.Q487E	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.Q487E|ZHX1_ENST00000522655.1_Missense_Mutation_p.Q487E	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	487	Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGGGGAAACTGATTTTTAAGG	0.368000													85	370					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102023314	102023314	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:102023314T>C	ENST00000549145.1	+	5	345	c.245T>C	c.(244-246)gTg>gCg	p.V82A	MYBPC1_ENST00000547405.1_Missense_Mutation_p.V43A|MYBPC1_ENST00000361685.2_Missense_Mutation_p.V94A|MYBPC1_ENST00000536007.1_Missense_Mutation_p.V69A|MYBPC1_ENST00000361466.2_Missense_Mutation_p.V94A|MYBPC1_ENST00000553190.1_Missense_Mutation_p.V69A|MYBPC1_ENST00000392934.3_Missense_Mutation_p.V56A|MYBPC1_ENST00000452455.2_Missense_Mutation_p.V69A|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.V55A|MYBPC1_ENST00000545503.2_Missense_Mutation_p.V69A|MYBPC1_ENST00000441232.1_Missense_Mutation_p.V69A|MYBPC1_ENST00000360610.2_Missense_Mutation_p.V69A|MYBPC1_ENST00000550270.1_Missense_Mutation_p.V69A|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000541119.1_Missense_Mutation_p.V57A			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	69	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GGAGGAACAGTGAAAGTTGGT	0.498000													12	31					0	0	1	0	0
TMEM220	388335	broad.mit.edu	37	17	10626615	10626615	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:10626615A>G	ENST00000341871.3	-	5	783	c.319T>C	c.(319-321)Tgg>Cgg	p.W107R	TMEM220_ENST00000578345.1_Intron|TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000455996.2_Missense_Mutation_p.W97R	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	107						integral to membrane				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						AGGATAATCCATGCTGTAATA	0.453000													34	31					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27456125	27456125	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:27456125C>T	ENST00000316403.10	-	8	1597	c.1192G>A	c.(1192-1194)Gtt>Att	p.V398I	CLU_ENST00000560366.1_Missense_Mutation_p.V450I|CLU_ENST00000546343.1_Missense_Mutation_p.V409I|CLU_ENST00000405140.3_Missense_Mutation_p.V398I|CLU_ENST00000523500.1_Missense_Mutation_p.V398I			P10909	CLUS_HUMAN	clusterin	398					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CCGGAAGGAACGTCCGAGTCA	0.488000													34	46					0	0	1	0	0
ALOX12	239	broad.mit.edu	37	17	6905047	6905047	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:6905047C>T	ENST00000251535.6	+	8	1131	c.1078C>T	c.(1078-1080)Cac>Tac	p.H360Y	AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399540.2_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	360	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GATCCAGTATCACTTGCTGAA	0.542000													13	81					0	0	1	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26666706	26666706	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:26666706C>T	ENST00000226225.2	+	2	426	c.159C>T	c.(157-159)ctC>ctT	p.L53L	TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	53	BTB.				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACACCATGCTCAAGGCCATGT	0.632000													37	25					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89711913	89711913	+	Nonsense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:89711913T>G	ENST00000371953.3	+	6	1888	c.531T>G	c.(529-531)taT>taG	p.Y177*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	177	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y177*(2)|p.Y178del(1)|p.Y177fs*2(1)|p.Y177fs*1(1)|p.G165_*404del(1)|p.V175fs*3(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATGTGTATTATTATAGCTACC	0.363000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			88	79					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63113920	63113920	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:63113920C>T	ENST00000251157.5	-	6	622	c.589G>A	c.(589-591)Gac>Aac	p.D197N	DOCK7_ENST00000404627.2_Missense_Mutation_p.D197N|DOCK7_ENST00000340370.5_Missense_Mutation_p.D197N	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	197					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTTTCAAGTCAAAGATACTA	0.363000													30	49					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55467708	55467708	+	Silent	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:55467708G>T	ENST00000360586.3	-	9	761	c.696C>A	c.(694-696)acC>acA	p.T232T	WDHD1_ENST00000420358.2_Silent_p.T109T|WDHD1_ENST00000421192.1_Silent_p.T109T	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	232						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTATATTGAGGGTCTGTAAAG	0.299000													8	51					5.18039e-06	5.32469e-06	1	1	0
DR1	1810	broad.mit.edu	37	1	93812344	93812344	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:93812344C>T	ENST00000370272.4	+	1	900	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	DR1_ENST00000370267.1_Missense_Mutation_p.H48Y	NM_001938.2	NP_001929.1	Q01658	NC2B_HUMAN	down-regulator of transcription 1, TBP-binding (negative cofactor 2)						histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex	sequence-specific DNA binding|TBP-class protein binding|transcription corepressor activity			endometrium(3)|large_intestine(1)	4		all_lung(203;0.00252)|Lung NSC(277;0.011)|Melanoma(281;0.155)		all cancers(265;0.0032)|GBM - Glioblastoma multiforme(16;0.0165)|Epithelial(280;0.0977)		TGAATTCATTCACCTTATATC	0.448000													37	38					0	0	1	0	0
YY1	7528	broad.mit.edu	37	14	100743870	100743870	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:100743870A>G	ENST00000262238.4	+	5	1438	c.1178A>G	c.(1177-1179)aAg>aGg	p.K393R		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	393	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				TGTAATAAGAAGTTTGCTCAG	0.463000													24	24					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37230703	37230703	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:37230703C>G	ENST00000233099.5	-	31	5127	c.5032G>C	c.(5032-5034)Gag>Cag	p.E1678Q	HEATR5B_ENST00000354531.2_Missense_Mutation_p.E1678Q	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1678							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TTTCTTTTCTCTTGCAAATAA	0.348000													12	105					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6578364	6578364	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:6578364C>T	ENST00000285599.3	+	2	234	c.198C>T	c.(196-198)cgC>cgT	p.R66R	MAN2B2_ENST00000504248.1_Silent_p.R66R	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	66					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						AGCTGGCCCGCGGCCAGCAGC	0.627000													41	68					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65497694	65497694	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:65497694C>G	ENST00000261883.4	-	5	701	c.535G>C	c.(535-537)Gca>Cca	p.A179P		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	179	TSP type-1.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACCATCTCTGCCAAGCAAATG	0.627000													6	41					0	0	1	0	0
SUMF2	25870	broad.mit.edu	37	7	56142304	56142304	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:56142304G>A	ENST00000434526.2	+	5	498	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	SUMF2_ENST00000413756.1_Missense_Mutation_p.R137Q|SUMF2_ENST00000275607.9_Missense_Mutation_p.R49Q|SUMF2_ENST00000342190.6_Missense_Mutation_p.R156Q|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.R141Q	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	137						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTGGCATCCGAGAGAGACTG	0.612000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	65					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37232780	37232780	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:37232780C>T	ENST00000233099.5	-	30	4995	c.4900G>A	c.(4900-4902)Gat>Aat	p.D1634N	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1634N	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1634							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGTACCTGATCTTCTGCAATA	0.408000													24	45					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107638856	107638856	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:107638856C>T	ENST00000393561.1	-	2	551	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	LAMB1_ENST00000393560.1_Missense_Mutation_p.V99M|LAMB1_ENST00000222399.6_Missense_Mutation_p.V99M			P07942	LAMB1_HUMAN	laminin, beta 1	99	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTAGTGACCACATTTTCAATG	0.413000													52	65					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211192582	211192582	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:211192582G>C	ENST00000367007.4	-	6	744	c.575C>G	c.(574-576)tCa>tGa	p.S192*	KCNH1_ENST00000271751.4_Nonsense_Mutation_p.S192*	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	192					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AAGGATGTCTGAGCCCAGCTG	0.428000													25	69					0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36522286	36522286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:36522286C>T	ENST00000577233.1	+	5	1177	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	SOCS7_ENST00000331159.5_Nonsense_Mutation_p.R359*	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	393	Mediates interaction with SORBS3.				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)					AGCCAGCCTTCGAGAGTTGGA	0.532000													22	35					0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29676226	29676226	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:29676226G>A	ENST00000360121.3	+	2	1269	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	SPN_ENST00000395389.2_Missense_Mutation_p.E393K	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	393					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						TGATGAGCCCGAAGGGGGAGA	0.647000													5	7					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120175769	120175769	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:120175769T>G	ENST00000260264.4	+	7	515	c.481T>G	c.(481-483)Tct>Gct	p.S161A	POU2F3_ENST00000543440.2_Missense_Mutation_p.S159A	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	159					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GCCAGGATCCTCTTTAGAACC	0.517000													19	33					0	0	1	0	0
FAM76A	199870	broad.mit.edu	37	1	28071294	28071294	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:28071294C>T	ENST00000373954.6	+	5	586	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	FAM76A_ENST00000419687.2_Missense_Mutation_p.R111C|FAM76A_ENST00000010299.6_Missense_Mutation_p.R196C|FAM76A_ENST00000234549.7_Missense_Mutation_p.R196C|FAM76A_ENST00000530324.1_Missense_Mutation_p.R162C|FAM76A_ENST00000373949.1_Missense_Mutation_p.R162C	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	162										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGTATAGTCGCCTGAGTGG	0.488000													25	44					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10906752	10906752	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:10906752C>T	ENST00000359692.6	+	10	1362	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	DNM2_ENST00000408974.4_Intron|DNM2_ENST00000355667.6_Silent_p.T404T|DNM2_ENST00000585892.1_Silent_p.T404T|DNM2_ENST00000389253.4_Intron|DNM2_ENST00000314646.5_Intron	NM_004945.3	NP_004936.2	P50570	DYN2_HUMAN	dynamin 2	404					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGCTTTTCACCCCGGACTTGG	0.532000			"""F, N, Splice, Mis, O"""		ETP ALL								6	194					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47899054	47899054	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:47899054G>A	ENST00000503935.2	+	11	1856	c.820G>A	c.(820-822)Gac>Aac	p.D274N	KAT7_ENST00000259021.4_Missense_Mutation_p.D430N|KAT7_ENST00000510819.1_Missense_Mutation_p.D261N|KAT7_ENST00000435742.2_Missense_Mutation_p.D244N|KAT7_ENST00000509773.1_Missense_Mutation_p.D320N|KAT7_ENST00000454930.2_Missense_Mutation_p.D291N|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.D400N			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	430					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										ACTTTTTCTGGACCACAAGAC	0.443000													14	77					0	0	1	0	0
STX3	6809	broad.mit.edu	37	11	59554581	59554581	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:59554581C>T	ENST00000535361.1	+	3	733	c.186C>T	c.(184-186)atC>atT	p.I62I	STX3_ENST00000300150.7_Silent_p.I31I|STX3_ENST00000437946.2_Intron|STX3_ENST00000337979.4_Silent_p.I62I|STX3_ENST00000529177.1_Silent_p.I62I			Q13277	STX3_HUMAN	syntaxin 3	62					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						TCTACAGTATCATTCTCTCTG	0.418000													19	29					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25885645	25885645	+	Missense_Mutation	SNP	G	G	T	rs140090961		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:25885645G>T	ENST00000376351.3	+	10	2431	c.2072G>T	c.(2071-2073)cGa>cTa	p.R691L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	691						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GACATGGGCCGATCTGGATCC	0.448000													19	36					3.8784e-16	4.10851e-16	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121652413	121652413	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:121652413C>G	ENST00000393386.2	+	12	3724	c.3313C>G	c.(3313-3315)Cat>Gat	p.H1105D	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1105					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTCCCTTGCTCATACCACCAC	0.403000													71	79					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	532642	532642	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:532642G>A	ENST00000451590.1	-	5	751	c.564C>T	c.(562-564)ctC>ctT	p.L188L	HRAS_ENST00000417302.1_3'UTR|HRAS_ENST00000311189.7_Silent_p.L188L|HRAS_ENST00000397596.2_Silent_p.L188L|HRAS_ENST00000397594.1_3'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	188					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TGCGTCAGGAGAGCACACACT	0.687000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			8	6					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238675	104238675	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:104238675C>T	ENST00000374851.1	-	4	1847	c.700G>A	c.(700-702)Gag>Aag	p.E234K	TMEM246_ENST00000374848.3_Missense_Mutation_p.E234K|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.E234K			Q9BRR3	CI125_HUMAN	transmembrane protein 246	234						integral to membrane											AGATGTGGCTCAGAGAAGCGA	0.542000													38	43					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47602101	47602101	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:47602101G>T	ENST00000371917.4	+	16	2227	c.2227G>T	c.(2227-2229)Gac>Tac	p.D743Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	743	SEC7.				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)			CCAAAAGATTGACCGATTAAT	0.483000													10	43					2.17888e-05	2.22716e-05	1	1	0
KNDC1	85442	broad.mit.edu	37	10	135020769	135020769	+	Silent	SNP	C	C	T	rs147343928		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:135020769C>T	ENST00000304613.3	+	20	3729	c.3708C>T	c.(3706-3708)aaC>aaT	p.N1236N	KNDC1_ENST00000368572.2_Silent_p.N1238N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1236					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCTTCTACAACGTCAACAAGC	0.662000													5	22					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24708260	24708260	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:24708260A>G	ENST00000222644.5	+	9	1345	c.1095A>G	c.(1093-1095)agA>agG	p.R365R	MPP6_ENST00000409761.1_Silent_p.R253R|MPP6_ENST00000396475.2_Silent_p.R365R			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATCCCACTAGATTTGGAACTA	0.408000													26	73					0	0	1	0	0
PRDX5	25824	broad.mit.edu	37	11	64089110	64089110	+	Missense_Mutation	SNP	G	G	A	rs1063141		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:64089110G>A	ENST00000265462.4	+	6	720	c.592G>A	c.(592-594)Gat>Aat	p.D198N	PRDX5_ENST00000352435.4_Missense_Mutation_p.D154N|PRDX5_ENST00000347941.4_Missense_Mutation_p.D109N	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	198	Thioredoxin.				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	tgtggaaccagatggcacagg	0.602000													8	11					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196227403	196227403	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:196227403G>A	ENST00000367433.5	-	25	3161	c.3060C>T	c.(3058-3060)taC>taT	p.Y1020Y	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Silent_p.Y978Y|KCNT2_ENST00000609185.1_Silent_p.Y977Y|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.9_Silent_p.Y1044Y	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1044						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTGACCTCCTGTAGAGGTTCA	0.433000													23	112					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80458004	80458004	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:80458004T>C	ENST00000265361.3	-	3	722	c.161A>G	c.(160-162)tAc>tGc	p.Y54C	SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000544525.1_Missense_Mutation_p.Y72C|SEMA3C_ENST00000419255.2_Missense_Mutation_p.Y54C	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	54	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAAAATCCTGTAGTCTAAAGG	0.388000													11	80					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176666836	176666836	+	Silent	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:176666836C>G	ENST00000439151.2	+	8	4317	c.4272C>G	c.(4270-4272)ccC>ccG	p.P1424P	NSD1_ENST00000354179.4_Silent_p.P1155P|NSD1_ENST00000361032.4_Silent_p.P1321P|NSD1_ENST00000347982.4_Silent_p.P1155P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1424					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GATTTATGCCCAAGAAGGGGG	0.313000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			8	47					0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5830743	5830743	+	Silent	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:5830743T>C	ENST00000339450.5	-	2	713	c.624A>G	c.(622-624)tcA>tcG	p.S208S	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	208					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AGTTTGCTACTGAGTCAAAAT	0.413000													19	25					0	0	1	0	0
TMEM33	55161	broad.mit.edu	37	4	41951361	41951361	+	Silent	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:41951361T>C	ENST00000504986.1	+	6	938	c.573T>C	c.(571-573)ttT>ttC	p.F191F	TMEM33_ENST00000513702.1_Silent_p.F191F|TMEM33_ENST00000325094.5_Silent_p.F191F	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	191						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						ACTATAGATTTCTTACCCTTC	0.318000													38	71					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56496823	56496823	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:56496823G>C	ENST00000370754.5	-	28	3721	c.3722C>G	c.(3721-3723)tCa>tGa	p.S1241*	DST_ENST00000370765.6_Nonsense_Mutation_p.S737*|DST_ENST00000370788.2_Nonsense_Mutation_p.S1063*|DST_ENST00000421834.2_Nonsense_Mutation_p.S1063*|DST_ENST00000361203.3_Nonsense_Mutation_p.S1063*|DST_ENST00000446842.2_Nonsense_Mutation_p.S737*|DST_ENST00000518935.1_Nonsense_Mutation_p.S737*|DST_ENST00000312431.6_Nonsense_Mutation_p.S1063*|DST_ENST00000244364.6_Nonsense_Mutation_p.S737*|DST_ENST00000370769.4_Nonsense_Mutation_p.S1063*			Q03001	DYST_HUMAN	dystonin	1063					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTATAAACTGATTCCTCTTG	0.333000													14	55					0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45406820	45406820	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:45406820G>A	ENST00000323030.5	+	1	302	c.17G>A	c.(16-18)gGc>gAc	p.G6D		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	6					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CTGTGGAACGGCGTACTGCCT	0.632000													19	10					0	0	1	0	0
GGT7	2686	broad.mit.edu	37	20	33440245	33440245	+	Silent	SNP	C	C	T	rs145189899		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:33440245C>T	ENST00000336431.5	-	11	1460	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	472					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCTGGGCAGCCGTGGGAGCTC	0.587000													33	51					0	0	1	0	0
TARDBP	23435	broad.mit.edu	37	1	11080561	11080561	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:11080561C>T	ENST00000240185.3	+	5	733	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	TARDBP_ENST00000439080.2_Silent_p.L91L|TARDBP_ENST00000315091.3_Silent_p.L207L	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	207	RRM 2.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		TGAGGATGAGCTGCGGGAGTT	0.463000													4	78					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90428705	90428705	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:90428705C>T	ENST00000369393.3	-	42	6217	c.6102G>A	c.(6100-6102)ccG>ccA	p.P2034P	MDN1_ENST00000428876.1_Silent_p.P2034P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2034					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GATGGCGGGACGGGTGAGGAA	0.562000													15	43					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80041240	80041240	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:80041240G>A	ENST00000306749.2	-	32	5621	c.5403C>T	c.(5401-5403)aaC>aaT	p.N1801N		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1801	Enoyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CACTGCTCTCGTTGAAGAACG	0.647000													38	10					0	0	1	0	0
ERGIC1	57222	broad.mit.edu	37	5	172359514	172359514	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:172359514C>T	ENST00000393784.3	+	8	756	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	206					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGCGGTACTCCTACCAGTAC	0.632000											OREG0017050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	27					0	0	1	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033547	26033547	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:26033547G>A	ENST00000259791.2	-	1	249	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	84					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCCAATTGCAGGTGGCGCGGG	0.602000													10	191					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53205130	53205130	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:53205130G>A	ENST00000262593.5	+	3	633	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	95	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			TTTTGCTTGCGAATCAGGTTT	0.423000													25	93					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122667776	122667776	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:122667776G>A	ENST00000339777.4	+	1	113	c.85G>A	c.(85-87)Gcg>Acg	p.A29T	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	29										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GACCGTGAGCGCGGCCGTGCG	0.751000													5	7					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168813013	168813013	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:168813013G>A	ENST00000464456.1	-	11	3479	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L	MECOM_ENST00000264674.3_Missense_Mutation_p.S834L|MECOM_ENST00000468789.1_Missense_Mutation_p.S769L|MECOM_ENST00000460814.1_Missense_Mutation_p.S760L|MECOM_ENST00000392736.3_Missense_Mutation_p.S769L|MECOM_ENST00000494292.1_Missense_Mutation_p.S948L|MECOM_ENST00000433243.2_Missense_Mutation_p.S770L|MECOM_ENST00000472280.1_Missense_Mutation_p.S770L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							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						TATGCTAAATGATCTGTCACA	0.333000													21	28					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105436548	105436548	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:105436548G>A	ENST00000351513.2	-	7	1294	c.1162C>T	c.(1162-1164)Ctc>Ttc	p.L388F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	388					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGGATAGAGATTAAAAATT	0.368000													45	102					0	0	1	0	0
TTPAL	79183	broad.mit.edu	37	20	43108659	43108659	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:43108659C>G	ENST00000372904.3	+	3	163	c.20C>G	c.(19-21)tCt>tGt	p.S7C	TTPAL_ENST00000262605.4_Missense_Mutation_p.S7C|TTPAL_ENST00000372906.2_Missense_Mutation_p.S7C	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	7						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						GAAAGTGACTCTCTGAGAACC	0.512000													23	28					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95603478	95603478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:95603478C>A	ENST00000343958.4	-	2	1805	c.1582G>T	c.(1582-1584)Gaa>Taa	p.E528*	FGD6_ENST00000549499.1_Nonsense_Mutation_p.E528*|FGD6_ENST00000546711.1_Nonsense_Mutation_p.E528*	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	528					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTTTTTTCTTCACTTGAAGGA	0.438000													37	150					3.62531e-18	3.85515e-18	1	1	0
KRT75	9119	broad.mit.edu	37	12	52825362	52825362	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:52825362C>G	ENST00000252245.5	-	4	1055	c.835G>C	c.(835-837)Gag>Cag	p.E279Q		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	279	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTGATCTCCTCGGGCAGAGAT	0.493000													9	38					0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57703293	57703293	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:57703293G>A	ENST00000263095.6	+	1	426	c.12G>A	c.(10-12)gcG>gcA	p.A4A	ZNF264_ENST00000599653.1_Silent_p.A4A|ZNF264_ENST00000600531.1_Silent_p.A4A|ZNF264_ENST00000536056.1_Silent_p.A4A	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TGGCGGCAGCGGTGCTGACGG	0.721000													8	5					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61754431	61754431	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:61754431G>A	ENST00000423902.2	+	21	5149	c.4670G>A	c.(4669-4671)aGa>aAa	p.R1557K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1557					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)			GATACTCCAAGAGTGAGAAAG	0.413000													5	14					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29745234	29745234	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:29745234G>A	ENST00000357586.2	-	11	1596	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L	AP1B1_ENST00000356015.2_Silent_p.L470L|AP1B1_ENST00000432560.2_Silent_p.L470L|AP1B1_ENST00000402502.1_Silent_p.L470L|AP1B1_ENST00000415447.1_Silent_p.L470L|AP1B1_ENST00000405198.1_Silent_p.L470L|AP1B1_ENST00000317368.7_Silent_p.L470L	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	470					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGAAGCCCTCGAGGAAGCTCT	0.617000													22	47					0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129695748	129695748	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:129695748C>T	ENST00000302649.3	+	3	945	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	TRH_ENST00000507066.1_Missense_Mutation_p.R136C	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	140					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						TCCTGGCCGGCGCTCCCCCTG	0.627000													18	73					0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124348769	124348769	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:124348769G>A	ENST00000287394.5	-	22	3162	c.3055C>T	c.(3055-3057)Cct>Tct	p.P1019S	ATAD2_ENST00000521903.1_Missense_Mutation_p.P337S	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1019	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACATAATCAGGAACCTAAAAT	0.328000													55	135					0	0	1	0	0
IL17RB	55540	broad.mit.edu	37	3	53894240	53894240	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:53894240C>T	ENST00000288167.3	+	10	940	c.931C>T	c.(931-933)Cta>Tta	p.L311L	RP11-884K10.7_ENST00000607783.1_RNA	NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	311					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AGGGATCTATCTAATGTGGAG	0.448000													48	57					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135801022	135801022	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:135801022A>G	ENST00000298552.3	-	5	536	c.315T>C	c.(313-315)caT>caC	p.H105H	TSC1_ENST00000545250.1_Intron|TSC1_ENST00000440111.2_Silent_p.H105H|TSC1_ENST00000403810.1_Silent_p.H105H|TSC1_ENST00000475903.1_5'UTR	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	105					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAGAGAGCTTATGCTTCCAAG	0.413000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				42	42					0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105563564	105563564	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:105563564G>C	ENST00000314641.5	-	7	1171	c.955C>G	c.(955-957)Ctt>Gtt	p.L319V	BVES_ENST00000446408.2_Missense_Mutation_p.L319V|BVES_ENST00000336775.5_Missense_Mutation_p.L319V	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	319					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AACTTACGAAGAGAGGACATG	0.443000													31	33					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24905816	24905816	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:24905816A>G	ENST00000313367.2	-	6	873	c.422T>C	c.(421-423)cTt>cCt	p.L141P	OSBPL3_ENST00000353930.1_Missense_Mutation_p.L141P|OSBPL3_ENST00000396429.1_Missense_Mutation_p.L141P|OSBPL3_ENST00000431825.2_Missense_Mutation_p.L141P|OSBPL3_ENST00000396431.1_Missense_Mutation_p.L141P|OSBPL3_ENST00000352860.1_Missense_Mutation_p.L141P|OSBPL3_ENST00000409069.1_Missense_Mutation_p.L141P	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	141	PH.				lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GTGGTGGCGAAGTTTCGATAC	0.393000													14	54					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017361	1017361	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:1017361G>C	ENST00000421673.2	-	31	5490	c.5440C>G	c.(5440-5442)Cct>Gct	p.P1814A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1814	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGTGACAGGACCTGTGGAA	0.587000													41	646					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150532578	150532578	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:150532578T>C	ENST00000271643.4	+	19	3367	c.3131T>C	c.(3130-3132)gTa>gCa	p.V1044A	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.V1044A|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.V1067A	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	1044	PLAC.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCCTGGTGGTACAGGCCCGG	0.622000											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	130					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65299109	65299109	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:65299109G>A	ENST00000524944.1	+	8	1104	c.1071G>A	c.(1069-1071)atG>atA	p.M357I	SCYL1_ENST00000525364.1_Missense_Mutation_p.M357I|SCYL1_ENST00000279270.6_Missense_Mutation_p.M357I|SCYL1_ENST00000527009.1_Missense_Mutation_p.M214I|SCYL1_ENST00000420247.2_Missense_Mutation_p.M357I|SCYL1_ENST00000270176.5_Missense_Mutation_p.M357I|SCYL1_ENST00000533862.1_Missense_Mutation_p.M357I			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	357					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						TGGTCAAGATGTTCTCATCCA	0.592000													14	32					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104082372	104082372	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:104082372C>T	ENST00000265148.3	-	20	2091	c.2002G>A	c.(2002-2004)Gat>Aat	p.D668N	CENPE_ENST00000380026.3_Missense_Mutation_p.D643N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	668					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)		AACTGAATATCATTTTCCATT	0.299000													16	46					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35295625	35295625	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:35295625C>G	ENST00000254457.5	+	1	1542	c.131C>G	c.(130-132)tCc>tGc	p.S44C		NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	44	LIM zinc-binding 1.				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)				AAGTGCTTCTCCAGGGAAGGC	0.577000													16	59					0	0	1	0	0
C18orf54	162681	broad.mit.edu	37	18	51898937	51898937	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr18:51898937G>A	ENST00000300091.5	+	6	1277	c.945G>A	c.(943-945)aaG>aaA	p.K315K	C18orf54_ENST00000382911.4_Silent_p.K476K|C18orf54_ENST00000578138.1_Silent_p.K94K|C18orf54_ENST00000582188.1_3'UTR	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	315						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ATCAAAATAAGACCACAGATC	0.323000													45	79					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20758848	20758848	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:20758848T>C	ENST00000274695.4	+	7	658	c.491T>C	c.(490-492)gTa>gCa	p.V164A	RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378624.4_Missense_Mutation_p.V94A|CDKAL1_ENST00000378610.1_Missense_Mutation_p.V164A	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	164	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GATCGTGTGGTAGAAGTTGTG	0.333000													3	85					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22866950	22866950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:22866950C>T	ENST00000283645.4	+	18	2597	c.2467C>T	c.(2467-2469)Caa>Taa	p.Q823*	TUBGCP5_ENST00000453949.2_Nonsense_Mutation_p.Q823*	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	823					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AATTTATAATCAAGTGTTTCT	0.303000													23	17					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54128577	54128577	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:54128577C>A	ENST00000404125.1	-	28	3250	c.3195G>T	c.(3193-3195)atG>atT	p.M1065I	PSME4_ENST00000421748.2_Missense_Mutation_p.M209I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1065					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)			TTTCCAGGGACATTGCTTGGC	0.428000													5	234					0.184627	0.184627	1	1	0
KCNK13	56659	broad.mit.edu	37	14	90651233	90651233	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:90651233C>T	ENST00000282146.4	+	2	1554	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	371						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTGAGATGGCCAACGGCTGCC	0.597000													10	36					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51768847	51768847	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:51768847A>T	ENST00000374056.4	+	7	1291	c.893A>T	c.(892-894)gAt>gTt	p.D298V	AGAP6_ENST00000412531.3_Missense_Mutation_p.D321V			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	321					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AGCTTAGGTGATTATATGAAG	0.433000													150	215					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373722	126373722	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:126373722C>T	ENST00000394329.3	+	9	11564	c.11551C>T	c.(11551-11553)Ctg>Ttg	p.L3851L	FAT4_ENST00000335110.5_Silent_p.L2149L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3851	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGCAAGTGTCTGCCAGGATA	0.463000													45	23					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233677127	233677127	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:233677127C>T	ENST00000373566.3	+	19	2296	c.2099C>T	c.(2098-2100)tCa>tTa	p.S700L	GIGYF2_ENST00000373563.4_Missense_Mutation_p.S678L|GIGYF2_ENST00000452341.2_Missense_Mutation_p.S509L|GIGYF2_ENST00000409547.1_Missense_Mutation_p.S678L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.S700L|GIGYF2_ENST00000409451.3_Missense_Mutation_p.S699L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S672L			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	678	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ATCATTCCCTCAGTAACTAGG	0.373000													9	14					0	0	1	0	0
CDC45	8318	broad.mit.edu	37	22	19504387	19504387	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:19504387G>A	ENST00000407835.1	+	18	1863	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	CDC45_ENST00000404724.3_Missense_Mutation_p.R490Q|CDC45_ENST00000437685.2_Missense_Mutation_p.R568Q|CDC45_ENST00000263201.1_Missense_Mutation_p.R536Q			O75419	CDC45_HUMAN	cell division cycle 45	536					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ACCAGCTCCCGGATGCTGCAC	0.582000													85	39					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34055313	34055313	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:34055313G>A	ENST00000397527.1	+	9	1504	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CEP250_ENST00000342580.4_Missense_Mutation_p.E262K|CEP250_ENST00000397524.1_Missense_Mutation_p.E262K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	262					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGAAGCCCATGAAAGGAGCCA	0.592000													30	35					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116691987	116691987	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:116691987G>A	ENST00000357780.3	-	3	901	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CTCTGCCGCAGCTCCTCGGCA	0.652000													47	41					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105203081	105203081	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:105203081G>A	ENST00000369797.3	+	33	5209	c.5115G>A	c.(5113-5115)gaG>gaA	p.E1705E		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1705					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCAAGTCAGAGAAATTCCAGG	0.572000													12	31					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80169003	80169003	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:80169003A>T	ENST00000265081.6	+	23	3279	c.3199A>T	c.(3199-3201)Agt>Tgt	p.S1067C		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1067					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGCAGCAAGGAGTTATGGATT	0.388000								Mismatch excision repair (MMR)					4	69					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124311325	124311325	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:124311325G>A	ENST00000409039.3	+	24	3942	c.3917G>A	c.(3916-3918)aGa>aAa	p.R1306K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1306	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGGGCTCTCAGAAAGCTACCT	0.448000													39	65					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974792	21974792	+	Missense_Mutation	SNP	G	G	A	rs141798398		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:21974792G>A	ENST00000304494.5	-	1	305	c.35C>T	c.(34-36)tCg>tTg	p.S12L	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.S12L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.S12L|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.S12L|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	12					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.S12*(3)|p.S12fs*6(1)|p.0(1)|p.S7_A19del(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCAGTCAGCCGAAGGCTCCAT	0.761000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	30					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22064894	22064894	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:22064894A>G	ENST00000306385.5	+	18	3110	c.2440A>G	c.(2440-2442)Aag>Gag	p.K814E	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	814	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCGAGACGCCAAGGCCCCCGT	0.622000													32	62					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49163817	49163817	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:49163817G>A	ENST00000418109.1	-	17	2296	c.2132C>T	c.(2131-2133)cCt>cTt	p.P711L	LAMB2_ENST00000305544.4_Missense_Mutation_p.P711L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	711	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGCAGGCCAGGTCCAGAGTA	0.577000													5	33					0	0	1	0	0
ALG1L	200810	broad.mit.edu	37	3	125650572	125650572	+	Silent	SNP	G	G	A	rs113361787		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:125650572G>A	ENST00000340333.3	-	4	347	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L		NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like	62							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						GACATGTGCAGACAGACACCC	0.587000													19	12					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67700277	67700277	+	Silent	SNP	A	A	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:67700277A>C	ENST00000545606.1	+	10	3266	c.2829A>C	c.(2827-2829)gcA>gcC	p.A943A		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	943					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)		GTGAGTGTGCAGAGGAAGGAA	0.418000													4	55					0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74306403	74306403	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:74306403G>C	ENST00000395792.2	+	4	455	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	AFP_ENST00000226359.2_Missense_Mutation_p.E119Q	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	119	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAAAGTGAAGAGGGAAGACA	0.423000									Alpha-Fetoprotein, Hereditary Persistence of				9	54					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727455	7727455	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:7727455C>T	ENST00000283147.6	+	1	426	c.267C>T	c.(265-267)ctC>ctT	p.L89L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	89					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGCTGGGGCTCCCGCACCGGC	0.726000													9	0					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157188156	157188156	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:157188156C>T	ENST00000362010.2	-	3	608	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	VEPH1_ENST00000468233.1_Missense_Mutation_p.E101K|VEPH1_ENST00000392833.2_Missense_Mutation_p.E101K|VEPH1_ENST00000392832.2_Missense_Mutation_p.E101K|VEPH1_ENST00000537559.1_Missense_Mutation_p.E101K|VEPH1_ENST00000494677.1_Missense_Mutation_p.E101K|VEPH1_ENST00000543418.1_Missense_Mutation_p.E101K	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	101						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGAGTGTCTTCGTCTTTCCCA	0.473000													40	51					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88307691	88307691	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:88307691G>C	ENST00000357081.3	-	3	214	c.70C>G	c.(70-72)Caa>Gaa	p.Q24E	AGTPBP1_ENST00000376081.4_Missense_Mutation_p.Q24E|AGTPBP1_ENST00000376080.1_5'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.Q24E|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_5'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.Q76E			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	24					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						TTCTCCAGTTGAGCCAGGAGT	0.388000													8	64					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170819274	170819274	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:170819274T>C	ENST00000436636.2	-	22	2899	c.2555A>G	c.(2554-2556)gAt>gGt	p.D852G	TNIK_ENST00000284483.8_Missense_Mutation_p.D844G|TNIK_ENST00000475336.1_Missense_Mutation_p.D760G|TNIK_ENST00000357327.5_Missense_Mutation_p.D823G|TNIK_ENST00000488470.1_Missense_Mutation_p.D797G|TNIK_ENST00000369326.5_Missense_Mutation_p.D830G|TNIK_ENST00000470834.1_Missense_Mutation_p.D815G|TNIK_ENST00000538048.1_Missense_Mutation_p.D804G|TNIK_ENST00000341852.6_Missense_Mutation_p.D768G|TNIK_ENST00000460047.1_Missense_Mutation_p.D789G	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	852	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CACTGTCCCATCATGGGTCTC	0.483000													81	119					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109025	21109025	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:21109025C>T	ENST00000320704.3	-	1	825	c.826G>A	c.(826-828)Gca>Aca	p.A276T		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		ACTGTCACTGCCCAGTTAGTG	0.453000													29	77					0	0	1	0	0
NUTF2	10204	broad.mit.edu	37	16	67904709	67904709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:67904709G>T	ENST00000219169.4	+	5	560	c.277G>T	c.(277-279)Gaa>Taa	p.E93*	NUTF2_ENST00000569436.2_Nonsense_Mutation_p.E93*|NUTF2_ENST00000568396.2_Nonsense_Mutation_p.E93*	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	93	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		ATAGGCGGATGAAGACCCCAT	0.458000													34	70					1.42033e-22	1.52061e-22	1	1	0
LAG3	3902	broad.mit.edu	37	12	6887433	6887433	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:6887433C>T	ENST00000203629.2	+	8	1788	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A		NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	485						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						GATTTTCTGCCTTAGAGCAAG	0.607000													6	9					0	0	1	0	0
SPRYD3	84926	broad.mit.edu	37	12	53471015	53471015	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:53471015G>A	ENST00000301463.4	-	2	140	c.54C>T	c.(52-54)ctC>ctT	p.L18L	SPRYD3_ENST00000547837.1_Silent_p.L55L	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	18	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGTGCAGGTTGAGGTCATCCA	0.532000													7	42					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220430010	220430010	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:220430010C>T	ENST00000404537.1	-	6	2417	c.2361G>A	c.(2359-2361)gaG>gaA	p.E787E	OBSL1_ENST00000265318.4_Silent_p.E787E|OBSL1_ENST00000289656.3_Silent_p.E374E|OBSL1_ENST00000373876.1_Silent_p.E787E|OBSL1_ENST00000373873.4_Silent_p.E787E|OBSL1_ENST00000603926.1_Silent_p.E787E	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	787	Ig-like 5.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CTGTCCTGCACTCAAACTCGC	0.607000											OREG0003987	type=REGULATORY REGION|Gene=BC061909|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	5					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101138780	101138780	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:101138780T>A	ENST00000372782.3	-	7	1666	c.1619A>T	c.(1618-1620)aAg>aTg	p.K540M	ZMAT1_ENST00000540921.1_Missense_Mutation_p.K540M|ZMAT1_ENST00000458570.1_Missense_Mutation_p.K369M|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	369						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCGTTTTCTCTTCTGATGTTT	0.393000													60	55					0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30522594	30522594	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:30522594T>A	ENST00000376621.3	-	4	1445	c.475A>T	c.(475-477)Att>Ttt	p.I159F		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	159					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GCCCCATGAATCTTCCCAAGA	0.498000													19	43					0	0	1	0	0
HAUS8	93323	broad.mit.edu	37	19	17160850	17160850	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:17160850C>T	ENST00000593360.1	-	10	2901	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	HAUS8_ENST00000448593.2_Missense_Mutation_p.E355K|HAUS8_ENST00000253669.5_Missense_Mutation_p.E356K			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	356					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CCCCCAGATTCTCTGCAGGCA	0.612000													15	27					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40716516	40716516	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:40716516A>G	ENST00000393818.2	+	3	1424	c.968A>G	c.(967-969)cAt>cGt	p.H323R	COASY_ENST00000420359.1_Missense_Mutation_p.H323R|COASY_ENST00000421097.2_Missense_Mutation_p.H323R|COASY_ENST00000590958.1_Missense_Mutation_p.H352R|COASY_ENST00000449624.1_Missense_Mutation_p.H28R	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	323	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GACCTCAGACATACAGAGAAT	0.532000													23	19					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325882	152325882	+	Silent	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:152325882T>A	ENST00000388718.5	-	3	4452	c.4380A>T	c.(4378-4380)acA>acT	p.T1460T	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1460							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)			TCCCATGAACTGTGGATCCTG	0.502000													420	170					0	0	1	0	0
TMEM141	85014	broad.mit.edu	37	9	139686204	139686204	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:139686204G>A	ENST00000290079.8	+	2	112	c.96G>A	c.(94-96)atG>atA	p.M32I	TMEM141_ENST00000465017.1_3'UTR|RP11-216L13.17_ENST00000456614.2_Intron	NM_032928.3	NP_116317.1	Q96I45	TM141_HUMAN	transmembrane protein 141	32						integral to membrane				large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.67e-06)|Epithelial(140;0.000112)		ACGCCTTCATGAAGGGCGTTT	0.662000											OREG0019622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	48					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78044536	78044536	+	Nonsense_Mutation	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:78044536T>A	ENST00000370801.3	-	11	2576	c.2101A>T	c.(2101-2103)Aag>Tag	p.K701*	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Nonsense_Mutation_p.K207*	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	701	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ATGAAATACTTCTGTACTCGG	0.343000													34	42					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38987111	38987111	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:38987111C>G	ENST00000355481.4	+	41	6857	c.6726C>G	c.(6724-6726)atC>atG	p.I2242M	RYR1_ENST00000360985.3_Missense_Mutation_p.I2242M|RYR1_ENST00000359596.3_Missense_Mutation_p.I2242M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2242	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCTGCCGAATCAGCCGGCAGA	0.632000													33	40					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647740	20647740	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:20647740G>A	ENST00000272233.4	+	1	906	c.514G>A	c.(514-516)Gag>Aag	p.E172K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	172					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CGAGGTCTTCGAGACGGCCAC	0.687000													95	55					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907844	12907844	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:12907844G>A	ENST00000317869.6	-	2	524	c.299C>T	c.(298-300)tCa>tTa	p.S100L		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.S100*(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CTCCGCTGCTGATCGTTTCAC	0.488000													6	119					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46008021	46008021	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:46008021G>A	ENST00000296137.2	-	8	3010	c.2805C>T	c.(2803-2805)gaC>gaT	p.D935D	FYCO1_ENST00000535325.1_Silent_p.D935D	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	935					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTCTTTGGCGTCCTGGAGCT	0.622000													4	99					0	0	1	0	0
RP11-44F14.1	0	broad.mit.edu	37	16	53404808	53404808	+	RNA	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:53404808C>G	ENST00000565421.1	-	0	233																											AAGTCAAGGTCAGAATCCTCA	0.418000													8	26					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166166894	166166894	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:166166894C>G	ENST00000357398.3	+	7	1049	c.759C>G	c.(757-759)atC>atG	p.I253M	SCN2A_ENST00000283256.6_Missense_Mutation_p.I253M|SCN2A_ENST00000375427.2_Missense_Mutation_p.I253M|SCN2A_ENST00000375437.2_Missense_Mutation_p.I253M			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	253					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I253I(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATGTCATGATCTTGACTGTGT	0.423000													70	33					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31221068	31221068	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr13:31221068G>A	ENST00000255304.4	+	7	1454		c.e7-1			NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1						ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTTTTTTATAGGCATATGAAG	0.343000													36	37					0	0	1	0	0
MRPL16	54948	broad.mit.edu	37	11	59575238	59575238	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:59575238A>G	ENST00000300151.4	-	3	419	c.206T>C	c.(205-207)tTa>tCa	p.L69S		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	69							rRNA binding			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						TATGTCACTTAAATTTTTAGG	0.413000													127	97					0	0	1	0	0
CLN8	2055	broad.mit.edu	37	8	1728476	1728476	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:1728476C>T	ENST00000331222.4	+	3	851	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	202	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TCACATGTTTCACTGCCGCAT	0.522000													40	34					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599286	136599286	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:136599286C>A	ENST00000531224.1	-	4	985	c.733G>T	c.(733-735)Gct>Tct	p.A245S	BCLAF1_ENST00000353331.4_Missense_Mutation_p.A243S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A245S|BCLAF1_ENST00000530767.1_Missense_Mutation_p.A245S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.A243S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.A243S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	245					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)		AGCATGGGAGCATCAGAGCAA	0.453000													35	86					3.90053e-15	4.128e-15	1	1	0
SBNO2	22904	broad.mit.edu	37	19	1112402	1112402	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:1112402G>A	ENST00000361757.3	-	21	2751	c.2514C>T	c.(2512-2514)ttC>ttT	p.F838F	SBNO2_ENST00000438103.2_Splice_Site_p.F781F|SBNO2_ENST00000587024.1_Splice_Site_p.F828F	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	838					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGACTCACCGAACTGCTGGA	0.746000													5	9					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48269484	48269484	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:48269484C>T	ENST00000435803.1	+	7	719	c.695C>T	c.(694-696)tCt>tTt	p.S232F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	232					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCCAGGTTTCTGAACTTGTA	0.403000													28	113					0	0	1	0	0
TRAV21	28662	broad.mit.edu	37	14	22521085	22521085	+	RNA	SNP	G	G	A	rs147548996	by1000genomes	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:22521085G>A	ENST00000390449.3	+	0	113																											CCCAGAAGGAGAAAACTTGGT	0.478000													30	27					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135116312	135116312	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:135116312G>C	ENST00000368563.2	-	2	490	c.134C>G	c.(133-135)tCt>tGt	p.S45C	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.S45C|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.S45C|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000417178.2_Intron	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	45					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ACTGTGAGCAGAGACAGTGGT	0.597000													27	32					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986631	46986631	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:46986631A>T	ENST00000306503.5	+	2	1134	c.962A>T	c.(961-963)aAt>aTt	p.N321I	SOCS5_ENST00000394861.2_Missense_Mutation_p.N321I	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	321					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCACAAGCTAATTGTGACTCG	0.463000													92	45					0	0	1	0	0
APIP	51074	broad.mit.edu	37	11	34905020	34905020	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:34905020C>T	ENST00000395787.3	-	6	707	c.493G>A	c.(493-495)Gag>Aag	p.E165K	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Missense_Mutation_p.E182K	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	165					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			GGTGTATTCTCAATAATGGGT	0.363000													52	38					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36124154	36124154	+	Splice_Site	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:36124154G>T	ENST00000262633.4	+	6	789	c.684G>T	c.(682-684)ctG>ctT	p.L228L	RBM42_ENST00000588161.1_Splice_Site_p.L198L|RBM42_ENST00000360475.4_Splice_Site_p.L199L|RBM42_ENST00000592202.1_Splice_Site_p.L174L|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Splice_Site_p.L206L|RBM42_ENST00000589559.1_Splice_Site_p.L199L	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	228	Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCCCCCTCTGGTGAGTGTGA	0.647000													19	99					3.99206e-14	4.21278e-14	1	1	0
PSMA5	5686	broad.mit.edu	37	1	109957978	109957978	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:109957978G>A	ENST00000271308.4	-	3	124	c.104C>T	c.(103-105)tCt>tTt	p.S35F	PSMA5_ENST00000538610.1_5'UTR|PSMA5_ENST00000490870.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	35					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		AATGGCTGTAGAACCAAGCTA	0.413000													29	44					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124812011	124812011	+	Splice_Site	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:124812011G>C	ENST00000334705.7	+	18	1941		c.e18-1		FAM91A1_ENST00000521166.1_Splice_Site	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1											breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CTTTTCAATAGAGTTATGATC	0.348000													24	158					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15210597	15210597	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:15210597A>G	ENST00000217246.4	+	6	825	c.430A>G	c.(430-432)Act>Gct	p.T144A	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Missense_Mutation_p.T144A	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	144	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TGTCATCCATACTGTAGGGCC	0.333000													28	52					0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764860	109764860	+	RNA	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:109764860C>T	ENST00000602699.1	+	0	1321					NR_002718.2																						GAACTACCACCGTCTGCACGT	0.478000													23	46					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119466096	119466096	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:119466096G>A	ENST00000369429.3	-	5	833	c.824C>T	c.(823-825)aCt>aTt	p.T275I	TBX15_ENST00000207157.3_Missense_Mutation_p.T169I			Q96SF7	TBX15_HUMAN	T-box 15	275						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGTGAACACAGTCTCAGGAAA	0.478000													47	21					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367783	145367783	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:145367783G>C	ENST00000342960.5	+	83	10414	c.10379G>C	c.(10378-10380)aGa>aCa	p.R3460T	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3460										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)		agaaggggaagaaaagaaggg	0.428000													9	154					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763616	113763616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:113763616C>T	ENST00000259211.6	+	2	487	c.76C>T	c.(76-78)Cag>Tag	p.Q26*		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	26					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						GTGGGTTCTTCAGGACCAGAC	0.483000													25	20					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758031	111758031	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:111758031G>A	ENST00000261726.6	+	17	2372	c.2218G>A	c.(2218-2220)Ggg>Agg	p.G740R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	740						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGCCAGAACGGGGCCCCGGC	0.761000													5	4					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124747960	124747960	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:124747960A>G	ENST00000397801.1	+	21	3306	c.3114A>G	c.(3112-3114)caA>caG	p.Q1038Q	ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Silent_p.Q1016Q|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1038					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GCTTCCCCCAACATCCCTCAG	0.642000													3	13					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46065050	46065050	+	Splice_Site	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr13:46065050A>G	ENST00000349995.5	+	9	1037	c.925A>G	c.(925-927)Act>Gct	p.T309A		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	309					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TACTTTGCAGACTCTTATTGA	0.303000													24	28					0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88747734	88747734	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:88747734G>A	ENST00000332281.5	-	2	551	c.465C>T	c.(463-465)ttC>ttT	p.F155F	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	155					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		TGTGGCAGTGGAAGCACTCAA	0.687000													14	33					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35377478	35377478	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:35377478G>A	ENST00000378495.3	+	15	1824	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	UNC13B_ENST00000378496.4_Silent_p.K534K|UNC13B_ENST00000396787.1_Silent_p.K546K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	534					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCAGAAAAGAGCTGTAAAC	0.542000													10	29					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49425124	49425124	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:49425124C>T	ENST00000301067.7	-	39	13363	c.13364G>A	c.(13363-13365)cGc>cAc	p.R4455H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCTTCTGAGCGAGGGCCTGC	0.627000													14	40					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107224318	107224318	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:107224318C>T	ENST00000282251.5	-	13	2044	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	CWF19L2_ENST00000433523.1_Missense_Mutation_p.E673K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	673							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AGACATTTTTCCATTTGTGCA	0.388000													18	42					0	0	1	0	0
DNASE2B	58511	broad.mit.edu	37	1	84874150	84874150	+	Translation_Start_Site	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:84874150G>A	ENST00000370662.3	+	0	238				DNASE2B_ENST00000370665.3_Missense_Mutation_p.D112N	NM_058248.1	NP_490649.1	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta						DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		AATATACAATGATGGAGTCCC	0.378000													12	17					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26190184	26190184	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:26190184C>T	ENST00000374296.3	-	2	813	c.147G>A	c.(145-147)gcG>gcA	p.A49A		NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	49					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGGTAGCCCGCATAGATGT	0.622000													43	37					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50393654	50393654	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:50393654G>T	ENST00000595948.1	-	10	1663	c.1043C>A	c.(1042-1044)gCg>gAg	p.A348E	IL4I1_ENST00000341114.3_Missense_Mutation_p.A348E|IL4I1_ENST00000391826.2_Missense_Mutation_p.A326E	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	326						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GCGCTTCACCGCCGGTCCGCT	0.677000											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	13					2.61681e-11	2.7406e-11	1	1	0
EPHA2	1969	broad.mit.edu	37	1	16475133	16475133	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:16475133C>T	ENST00000358432.5	-	3	717	c.563G>A	c.(562-564)tGt>tAt	p.C188Y	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	188	Cys-rich.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CAGCGCCACACAGGCACCGAT	0.642000													10	15					0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129293995	129293995	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:129293995C>T	ENST00000266771.5	-	4	1074	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q	SLC15A4_ENST00000539703.1_5'UTR|SLC15A4_ENST00000544112.1_Silent_p.Q8Q	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	345					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		AATGAAGACTCTGTAAAACAT	0.368000													6	163					0	0	1	0	0
HDAC3	8841	broad.mit.edu	37	5	141008190	141008190	+	Silent	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:141008190G>T	ENST00000305264.3	-	8	706	c.627C>A	c.(625-627)gtC>gtA	p.V209V		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	209	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TCTCTGCCCCGACTTCATACA	0.577000													11	27					5.50884e-06	5.64656e-06	1	1	0
GYS2	2998	broad.mit.edu	37	12	21716223	21716223	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:21716223G>C	ENST00000261195.2	-	6	1134	c.880C>G	c.(880-882)Caa>Gaa	p.Q294E		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	294					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGTAGATTTTGAAACTCATGC	0.313000													42	72					0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50092275	50092275	+	Silent	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:50092275T>A	ENST00000298292.8	-	3	2579	c.2499A>T	c.(2497-2499)ctA>ctT	p.L833L	DNAAF2_ENST00000406043.3_Silent_p.L785L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	833					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						CCAAATCATATAGCAAAGAAT	0.294000													11	33					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42787474	42787474	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:42787474G>A	ENST00000432191.2	+	7	658	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	PPHLN1_ENST00000337898.6_Missense_Mutation_p.E196K|PPHLN1_ENST00000395568.2_Missense_Mutation_p.E251K|PPHLN1_ENST00000358314.7_Missense_Mutation_p.E251K|PPHLN1_ENST00000449194.2_Missense_Mutation_p.E232K|PPHLN1_ENST00000549190.1_Missense_Mutation_p.E269K|PPHLN1_ENST00000395580.3_Missense_Mutation_p.E258K|PPHLN1_ENST00000256678.8_Missense_Mutation_p.E131K|PPHLN1_ENST00000317560.9_Missense_Mutation_p.E184K|PPHLN1_ENST00000552761.1_Missense_Mutation_p.E203K	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	251	Ser-rich.				keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TAACTTGCCTGAAATTTCTGA	0.378000													16	36					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276940	71276940	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:71276940G>A	ENST00000398531.1	+	1	332	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	103	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTCCAAGGGGGGCTGTGGTTC	0.682000													39	65					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101180478	101180478	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:101180478T>G	ENST00000370508.5	-	2	230	c.203A>C	c.(202-204)aAt>aCt	p.N68T	GOT1_ENST00000471741.1_5'UTR|GOT1_ENST00000543866.1_Missense_Mutation_p.N47T	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	68					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATACTCGTGATTTAGGCTATT	0.522000													16	66					0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395652	160395652	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:160395652G>A	ENST00000320767.2	+	1	705	c.518G>A	c.(517-519)gGa>gAa	p.G173E		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	173					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			AAATTAACTGGATTTGTGAAG	0.498000													23	35					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77471913	77471913	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:77471913A>C	ENST00000560626.2	-	4	2831	c.2356T>G	c.(2356-2358)Tct>Gct	p.S786A	PEAK1_ENST00000312493.4_Missense_Mutation_p.S786A|PEAK1_ENST00000558305.1_Missense_Mutation_p.S786A			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	786	Pro-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TTAGGGCCAGATTGAGGTGTT	0.522000													10	32					0	0	1	0	0
SERGEF	26297	broad.mit.edu	37	11	17809933	17809933	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:17809933T>C	ENST00000265965.5	-	11	1227	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	SERGEF_ENST00000528200.1_3'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	359					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						GCCATGCTCATTCCAGCCCCA	0.557000													8	30					0	0	1	0	0
DCTN4	51164	broad.mit.edu	37	5	150095149	150095149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:150095149G>A	ENST00000447998.2	-	12	1262	c.1147C>T	c.(1147-1149)Caa>Taa	p.Q383*	DCTN4_ENST00000446090.2_Nonsense_Mutation_p.Q390*|DCTN4_ENST00000424236.1_Nonsense_Mutation_p.Q326*	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	383						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAAAGTCTTGAGGTTCTGCC	0.483000													25	14					0	0	1	0	0
MRPS14	63931	broad.mit.edu	37	1	174987626	174987626	+	Silent	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:174987626G>T	ENST00000476371.1	-	2	148	c.132C>A	c.(130-132)gcC>gcA	p.A44A		NM_022100.2	NP_071383.1	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	44					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CGTATTCATAGGCCATTTTTC	0.418000													6	141					0.00116845	0.0011845	1	1	0
RPS8	6202	broad.mit.edu	37	1	45244268	45244268	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:45244268G>C	ENST00000396651.3	+	6	698	c.538G>C	c.(538-540)Gga>Cga	p.G180R	RPS8_ENST00000485390.1_3'UTR|RPS8_ENST00000372209.3_Missense_Mutation_p.G160R			P62241	RS8_HUMAN	ribosomal protein S8	180					endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					TTCAAGGCCGGGACAGTGTGG	0.507000													4	32					0	0	1	0	0
NUDC	10726	broad.mit.edu	37	1	27268078	27268078	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:27268078C>T	ENST00000321265.5	+	3	413	c.290C>T	c.(289-291)tCa>tTa	p.S97L		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	97					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GAAGCCAAGTCAGAGACCTCA	0.642000													4	13					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554517	85554517	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:85554517C>T	ENST00000377386.3	-	2	800	c.338G>A	c.(337-339)gGt>gAt	p.G113D	TGOLN2_ENST00000444342.2_Missense_Mutation_p.G113D|TGOLN2_ENST00000398263.2_Missense_Mutation_p.G113D|TGOLN2_ENST00000409232.3_Missense_Mutation_p.G113D|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409015.1_Missense_Mutation_p.G113D			O43493	TGON2_HUMAN	trans-golgi network protein 2	113	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CGCCTCCGAACCCGACTTGCT	0.577000													703	465					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37340817	37340817	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:37340817G>C	ENST00000361924.2	+	9	1415	c.1041G>C	c.(1039-1041)caG>caC	p.Q347H	GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q369H|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	347	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						TTATCACTCAGTTGCGTGATG	0.328000													7	92					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78279686	78279686	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:78279686C>T	ENST00000281038.5	-	3	739	c.364G>A	c.(364-366)Gat>Aat	p.D122N	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	122					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	ACCTTGGCATCACAATTTCCA	0.368000													25	47					0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793423	53793423	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:53793423G>T	ENST00000426466.1	-	1	1452	c.205C>A	c.(205-207)Ctg>Atg	p.L69M		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	69					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TCTTCTAGCAGATATTTGCAA	0.433000													9	109					0.000274275	0.000279065	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63416953	63416953	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:63416953G>C	ENST00000322893.7	-	7	1535	c.1267C>G	c.(1267-1269)Ctc>Gtc	p.L423V	KCNH5_ENST00000394964.2_Missense_Mutation_p.L365V|KCNH5_ENST00000394968.1_Missense_Mutation_p.L365V|KCNH5_ENST00000420622.2_Missense_Mutation_p.L423V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	423					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTAAAGTAGAGAGAGGACACG	0.473000													18	51					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123846705	123846705	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:123846705G>A	ENST00000369005.1	+	4	5030	c.4690G>A	c.(4690-4692)Gca>Aca	p.A1564T	TACC2_ENST00000334433.3_Missense_Mutation_p.A1564T|TACC2_ENST00000453444.2_Missense_Mutation_p.A1564T|TACC2_ENST00000515603.1_Missense_Mutation_p.A1564T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.A1564T|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1564						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCTTCACCAGCAGCTACTCA	0.617000													5	27					0	0	1	0	0
PPWD1	23398	broad.mit.edu	37	5	64865504	64865504	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:64865504C>T	ENST00000261308.5	+	3	417	c.345C>T	c.(343-345)ttC>ttT	p.F115F	PPWD1_ENST00000535264.1_Silent_p.F85F|PPWD1_ENST00000538977.1_5'UTR	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	115					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		ATGTCAAGTTCTGGAAAAAAA	0.313000													25	11					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608414	177608414	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:177608414A>G	ENST00000280193.2	-	6	1487	c.1072T>C	c.(1072-1074)Tgt>Cgt	p.C358R	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	358	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TCACAGGCACATTTTCCAGGA	0.428000													147	125					0	0	1	0	0
RGS20	8601	broad.mit.edu	37	8	54866819	54866819	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:54866819G>A	ENST00000297313.3	+	5	1019	c.927G>A	c.(925-927)gaG>gaA	p.E309E	RGS20_ENST00000522225.1_Silent_p.E43E|RGS20_ENST00000344277.6_Silent_p.E194E|RGS20_ENST00000517405.1_3'UTR|RGS20_ENST00000276500.4_Silent_p.E162E	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	309	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TTATTGAAGAGAAAGCAAGGA	0.388000													34	18					0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210391	100210391	+	Translation_Start_Site	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:100210391G>A	ENST00000393950.2	+	0	259				MOSPD3_ENST00000379527.2_De_novo_Start_OutOfFrame|MOSPD3_ENST00000424091.2_De_novo_Start_OutOfFrame|MOSPD3_ENST00000223054.4_De_novo_Start_OutOfFrame	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3							integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTGCCCTCGGATGTCCGACC	0.741000													21	21					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51664659	51664659	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:51664659G>T	ENST00000522124.1	+	18	2044	c.1383G>T	c.(1381-1383)caG>caT	p.Q461H	SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000518864.1_Missense_Mutation_p.Q461H|SNTG1_ENST00000276467.5_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	461					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.Q461H(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATACTAAACAGATTGAAGCAA	0.373000													14	67					7.93312e-07	8.1845e-07	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120569004	120569004	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:120569004A>G	ENST00000300648.6	-	55	7560	c.7548T>C	c.(7546-7548)agT>agC	p.S2516S		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2516					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGCCGTGGCACTGCTCAGGA	0.592000													26	30					0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026326	182026326	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:182026326C>T	ENST00000339948.3	-	2	1027	c.820G>A	c.(820-822)Ggc>Agc	p.G274S		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G274S(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						TTGGCGGCGCCGCCGCGCGTC	0.741000													16	3					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18737196	18737196	+	Silent	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:18737196C>A	ENST00000513874.1	-	11	1453	c.1314G>T	c.(1312-1314)ctG>ctT	p.L438L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	438	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCTCACACTCCAGGCATGCGC	0.537000													12	61					2.27111e-07	2.35184e-07	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85439813	85439813	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:85439813G>C	ENST00000393217.2	+	5	413	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	118										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCTGAAATAGAAAAAGAAGA	0.308000													17	44					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115298698	115298698	+	Silent	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:115298698T>G	ENST00000357872.4	+	1	508	c.384T>G	c.(382-384)acT>acG	p.T128T	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		128					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TGCCCTTCACTGGCCGCGTGA	0.692000													16	61					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682550	31682550	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:31682550G>A	ENST00000319386.3	+	11	2115	c.1122G>A	c.(1120-1122)atG>atA	p.M374I	CCDC129_ENST00000451887.2_Missense_Mutation_p.M548I|CCDC129_ENST00000407970.3_Missense_Mutation_p.M522I|CCDC129_ENST00000409210.1_Missense_Mutation_p.M430I			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	522										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCCAGACATGGCCTGTGCCA	0.552000													24	106					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45550618	45550618	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr21:45550618G>C	ENST00000291576.7	+	21	2852	c.2725G>C	c.(2725-2727)Gga>Cga	p.G909R		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	909						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCTTGGAGGAGGAGGCAGAGA	0.587000													34	44					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56492865	56492865	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:56492865G>A	ENST00000370754.5	-	32	4470	c.4471C>T	c.(4471-4473)Cag>Tag	p.Q1491*	DST_ENST00000370765.6_Nonsense_Mutation_p.Q987*|DST_ENST00000370788.2_Nonsense_Mutation_p.Q1313*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q1313*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q1313*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q987*|DST_ENST00000518935.1_Nonsense_Mutation_p.Q987*|DST_ENST00000312431.6_Nonsense_Mutation_p.Q1313*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q987*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q1313*			Q03001	DYST_HUMAN	dystonin	1313					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCTTTCTCTGAGTAGTTTCA	0.398000													18	61					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70236588	70236588	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:70236588C>T	ENST00000342771.4	+	11	2109	c.1788C>T	c.(1786-1788)ccC>ccT	p.P596P	AUTS2_ENST00000406775.2_Silent_p.P596P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	596								p.P596P(1)		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)		TGATCCCACCCACTGGCCCTT	0.532000													7	90					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22181827	22181827	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:22181827C>T	ENST00000374695.3	-	47	6046	c.5967G>A	c.(5965-5967)tgG>tgA	p.W1989*	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1989	Ig-like C2-type 5.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTTCCTTCCTCCAGGTGATGG	0.672000													6	6					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998446	29998446	+	Silent	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:29998446C>G	ENST00000308893.4	+	16	3896	c.2853C>G	c.(2851-2853)ctC>ctG	p.L951L	TAOK2_ENST00000416441.2_Silent_p.L778L|TAOK2_ENST00000543033.1_Silent_p.L838L|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	951	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCCATGGCCTCCTGGCCGGCC	0.677000													30	74					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77670490	77670490	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr13:77670490C>T	ENST00000407578.2	-	57	10177	c.9911G>A	c.(9910-9912)aGa>aAa	p.R3304K	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3266K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3266K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3266					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)		GTATTTTTCTCTACAGCGATC	0.418000													46	68					0	0	1	0	0
MRPL45	84311	broad.mit.edu	37	17	36476604	36476604	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:36476604C>G	ENST00000312513.5	+	6	774	c.613C>G	c.(613-615)Cag>Gag	p.Q205E		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	205					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TATGATGAACCAGGGCAACGT	0.517000													91	122					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40594735	40594735	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:40594735A>G	ENST00000260402.3	-	4	556	c.307T>C	c.(307-309)Tcc>Ccc	p.S103P	PLCB2_ENST00000543785.2_Missense_Mutation_p.S103P|PLCB2_ENST00000456256.2_Missense_Mutation_p.S103P|PLCB2_ENST00000557821.1_Missense_Mutation_p.S103P	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	103					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)		TCCGGGCCGGACACCACCGTG	0.587000													29	32					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	213403175	213403175	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:213403175G>A	ENST00000342788.4	-	1	390	c.80C>T	c.(79-81)tCa>tTa	p.S27L	ERBB4_ENST00000402597.1_Missense_Mutation_p.S27L|ERBB4_ENST00000436443.1_Missense_Mutation_p.S27L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	27					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAACCCACCTGACTGAGAATC	0.662000										TSP Lung(8;0.080)			40	7					0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114765077	114765077	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr13:114765077G>T	ENST00000334062.7	-	20	2037	c.1916C>A	c.(1915-1917)tCt>tAt	p.S639Y	RASA3_ENST00000389544.4_Missense_Mutation_p.S607Y	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	639	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CATTTTGAAAGACTCCTCCTC	0.587000													4	39					0.00909568	0.00914525	1	1	0
ACBD5	91452	broad.mit.edu	37	10	27512269	27512269	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:27512269G>C	ENST00000396271.3	-	5	614	c.488C>G	c.(487-489)tCa>tGa	p.S163*	ACBD5_ENST00000375888.1_Nonsense_Mutation_p.S161*|ACBD5_ENST00000375897.3_Nonsense_Mutation_p.S54*|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Nonsense_Mutation_p.S128*|ACBD5_ENST00000375901.1_Nonsense_Mutation_p.S54*	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	161					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGTCCAACCTGAGGTTATATC	0.343000													24	37					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41009477	41009477	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:41009477C>T	ENST00000399564.4	-	32	3775	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E664K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCTGGCTTTTCAGCCAGCGCC	0.498000													44	118					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2279581	2279581	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:2279581C>T	ENST00000301727.4	+	3	368	c.320C>T	c.(319-321)gCa>gTa	p.A107V	E4F1_ENST00000565090.1_Missense_Mutation_p.A107V|E4F1_ENST00000564139.1_Missense_Mutation_p.A107V	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	107					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GTGGTGCCGGCAGCACCAGGC	0.592000													30	88					0	0	1	0	0
PARN	5073	broad.mit.edu	37	16	14704549	14704549	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:14704549C>T	ENST00000437198.2	-	7	647	c.506G>A	c.(505-507)tGt>tAt	p.C169Y	PARN_ENST00000566021.1_5'UTR|PARN_ENST00000341484.7_Missense_Mutation_p.C108Y|PARN_ENST00000539279.1_Intron|PARN_ENST00000420015.2_Missense_Mutation_p.C123Y	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	169					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CGTGACAGGACATTTTGAAGT	0.403000													18	62					0	0	1	0	0
PRSS33	260429	broad.mit.edu	37	16	2835820	2835820	+	Silent	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:2835820T>A	ENST00000576886.1	-	3	515	c.222A>T	c.(220-222)acA>acT	p.T74T	PRSS33_ENST00000293851.5_Silent_p.T74T|PRSS33_ENST00000570702.1_Silent_p.T74T			Q8NF86	PRS33_HUMAN	protease, serine, 33	74	Peptidase S1.				proteolysis		serine-type endopeptidase activity			prostate(1)	1						AGTGCGCCGCTGTCAGCACCC	0.726000													10	10					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423793	107423793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:107423793G>A	ENST00000340010.5	-	9	1160	c.976C>T	c.(976-978)Cag>Tag	p.Q326*	SLC26A3_ENST00000422236.2_Nonsense_Mutation_p.Q291*	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	326					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATAGGGGGCTGAAATCTAAAA	0.413000													20	90					0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061381	11061381	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:11061381C>T	ENST00000390677.2	-	1	780	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	173					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAAAATGTTTCAAAGTCACTC	0.348000													45	73					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51192712	51192712	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:51192712T>G	ENST00000245441.5	-	30	6341	c.6151A>C	c.(6151-6153)Aaa>Caa	p.K2051Q	NIN_ENST00000530997.2_Missense_Mutation_p.K2051Q|NIN_ENST00000382043.4_Missense_Mutation_p.K1338Q|NIN_ENST00000324330.9_3'UTR|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000382041.3_Missense_Mutation_p.K2051Q	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2051					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AGAAGCCTTTTCACTAGTTTC	0.418000			T	PDGFRB	MPD								21	56					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24906225	24906225	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:24906225A>G	ENST00000379068.3	+	35	4193	c.4150A>G	c.(4150-4152)Aca>Gca	p.T1384A	POLA1_ENST00000379059.3_Missense_Mutation_p.T1378A			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1378					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	CATGAAAGCTACACTTCAACC	0.478000													33	45					0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31741099	31741099	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:31741099G>A	ENST00000266269.5	-	1	1119	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	PATZ1_ENST00000215919.3_Silent_p.L164L|PATZ1_ENST00000405309.3_Silent_p.L164L|PATZ1_ENST00000351933.4_Silent_p.L164L	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	164					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GGGGGTACCAGGATCTGTACG	0.587000													64	94					0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198236	15198236	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:15198236C>T	ENST00000209540.2	+	1	446	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TAATGGCCATCGACCGCTTCG	0.577000													19	25					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18462271	18462271	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:18462271C>T	ENST00000338745.6	-	2	1923	c.189G>A	c.(187-189)ctG>ctA	p.L63L	SATB1_ENST00000454909.2_Silent_p.L63L|SATB1_ENST00000417717.2_Silent_p.L63L|SATB1_ENST00000493952.2_Silent_p.L63L|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	63					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGTTTTCATCAGATGGCCCG	0.512000													45	176					0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46933492	46933492	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:46933492C>T	ENST00000258947.3	+	10	1052	c.951C>T	c.(949-951)aaC>aaT	p.N317N	CALCOCO2_ENST00000509507.1_Silent_p.N338N|CALCOCO2_ENST00000416445.2_Silent_p.N275N|CALCOCO2_ENST00000448105.2_Silent_p.N341N|CALCOCO2_ENST00000508679.1_Silent_p.N245N	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	317					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TGAGTGAGAACGAAATTATAT	0.373000													4	30					0	0	1	0	0
DTL	51514	broad.mit.edu	37	1	212273891	212273891	+	Missense_Mutation	SNP	C	C	T	rs146481751		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:212273891C>T	ENST00000366991.4	+	14	1873	c.1559C>T	c.(1558-1560)tCg>tTg	p.S520L	DTL_ENST00000542077.1_Missense_Mutation_p.S478L|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	520					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	p.S520L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCACCTGCTTCGGAGACCAAG	0.502000													10	57					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16847941	16847941	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:16847941C>T	ENST00000355661.3	-	10	1079	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D357N|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D357N			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	357					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						TTGCTCCGGTCCCGCTTGCCC	0.607000													12	41					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1459139	1459139	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:1459139C>T	ENST00000359801.3	-	3	601	c.565G>A	c.(565-567)Gga>Aga	p.G189R	SIRPB2_ENST00000444444.2_Missense_Mutation_p.G91R|SIRPB2_ENST00000608747.1_5'UTR|SIRPB2_ENST00000537284.1_Missense_Mutation_p.G51R	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	189	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTGATGGGTCCAGGGGGACCG	0.587000													32	46					0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116206872	116206872	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:116206872C>T	ENST00000355485.2	+	4	1066	c.795C>T	c.(793-795)taC>taT	p.Y265Y	VANGL1_ENST00000369509.1_Silent_p.Y265Y|VANGL1_ENST00000310260.3_Silent_p.Y265Y|VANGL1_ENST00000369510.4_Silent_p.Y263Y	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	265					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCCGCTTCTACAGCCTGGGAC	0.602000													13	16					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12154836	12154836	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:12154836G>A	ENST00000602107.1	-	5	1520	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Silent_p.F460F			C9JN71	ZN878_HUMAN	zinc finger protein 878	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TAGAAGAAATGAAGGCTTTTC	0.383000													32	45					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183217519	183217519	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:183217519C>T	ENST00000341319.3	-	4	1041	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	336										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CAGGTCACCTCTGCCACAAAC	0.577000													35	57					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708004	29708004	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:29708004G>T	ENST00000471961.1	+	5	2611	c.1563G>T	c.(1561-1563)tgG>tgT	p.W521C	GAS2L1_ENST00000407647.2_Missense_Mutation_p.W521C|GAS2L1_ENST00000403764.1_Missense_Mutation_p.W521C|GAS2L1_ENST00000407854.1_Missense_Mutation_p.W521C|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000360113.2_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	0					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCGGCGCCTGGAAGAGGAGTT	0.692000													30	94					3.73148e-12	3.9154e-12	1	1	0
PSME4	23198	broad.mit.edu	37	2	54096536	54096536	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:54096536A>T	ENST00000404125.1	-	44	5295	c.5240T>A	c.(5239-5241)gTa>gAa	p.V1747E	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.V891E	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1747					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)			GGTATCTCCTACAGAACCAGG	0.398000													30	260					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94344018	94344018	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:94344018C>G	ENST00000282020.4	+	10	1702	c.1444C>G	c.(1444-1446)Ctg>Gtg	p.L482V	GRID2_ENST00000510992.1_Missense_Mutation_p.L387V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	482					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCTAACTACCTGGGTTTTAA	0.428000													13	46					0	0	1	0	0
NXN	64359	broad.mit.edu	37	17	722758	722758	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:722758G>T	ENST00000336868.3	-	5	832	c.741C>A	c.(739-741)ttC>ttA	p.F247L	NXN_ENST00000538650.1_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.F139L|NXN_ENST00000537628.2_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	247	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GCATCTCACTGAAGTACTGTT	0.637000													10	30					1.58986e-06	1.63871e-06	1	1	0
NXF4	55999	broad.mit.edu	37	X	101822135	101822135	+	RNA	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:101822135C>T	ENST00000360035.2	+	0	1888					NR_002216.1															endometrium(2)|lung(8)	10						CTCTCCAGATCACTCATTACT	0.458000													7	8					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17672653	17672653	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:17672653C>G	ENST00000399839.1	-	5	1071	c.801G>C	c.(799-801)aaG>aaC	p.K267N	CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000399837.2_Missense_Mutation_p.K267N|CECR1_ENST00000330232.4_Missense_Mutation_p.K26N|CECR1_ENST00000262607.3_Missense_Mutation_p.K267N|CECR1_ENST00000449907.2_Missense_Mutation_p.K225N	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	267					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCTGGTAAGTCTTCACTGACC	0.478000													48	85					0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8777847	8777847	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr18:8777847G>A	ENST00000359865.3	+	5	516	c.374G>A	c.(373-375)aGa>aAa	p.R125K	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.R125K|SOGA2_ENST00000400050.3_Missense_Mutation_p.R125K|SOGA2_ENST00000306329.11_Missense_Mutation_p.R485K	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	476																	CTAAAAAGAAGAAGCACTCGG	0.428000													35	62					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18221672	18221672	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:18221672T>C	ENST00000380033.4	-	5	988	c.856A>G	c.(856-858)Aat>Gat	p.N286D	BEND2_ENST00000380030.3_Missense_Mutation_p.N286D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	286										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGGCCCACATTTTCATTTTCT	0.428000													6	99					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79167799	79167799	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:79167799C>T	ENST00000269392.4	-	18	2504	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	AZI1_ENST00000575907.1_Missense_Mutation_p.E753K|AZI1_ENST00000374782.3_Missense_Mutation_p.E750K|AZI1_ENST00000450824.2_Missense_Mutation_p.E750K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	753					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGCAGCTCCTCGGCCTGGCGC	0.721000													5	3					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23091365	23091365	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:23091365C>T	ENST00000219689.7	-	13	2077	c.2078G>A	c.(2077-2079)aGa>aAa	p.R693K		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	693					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ATAGGGCCGTCTCCACGGGGA	0.562000													33	36					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563608	55563608	+	Missense_Mutation	SNP	G	G	C	rs144571267	byFrequency	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:55563608G>C	ENST00000335605.1	+	1	577	c.577G>C	c.(577-579)Gat>Cat	p.D193H		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D193N(1)|p.D193Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCTGGCTCTGATATACTCAT	0.433000													78	60					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47038822	47038822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:47038822C>T	ENST00000377604.3	+	9	1571	c.829C>T	c.(829-831)Cag>Tag	p.Q277*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q200*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q200*|RBM10_ENST00000478410.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	277					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCAGCCCTACCAGGCCCAGGG	0.642000													3	6					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1320141	1320141	+	Nonsense_Mutation	SNP	C	C	T	rs143789454		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:1320141C>T	ENST00000446702.2	+	5	1030	c.403C>T	c.(403-405)Cga>Tga	p.R135*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.R63*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.R135*			Q9UQ52	CNTN6_HUMAN	contactin 6	135	Ig-like C2-type 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGTATCTGTCCGAGAAGGTCA	0.398000													55	115					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30914586	30914586	+	Silent	SNP	A	A	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:30914586A>C	ENST00000375712.3	+	6	1928	c.1761A>C	c.(1759-1761)atA>atC	p.I587I	KIF3B_ENST00000418717.2_Silent_p.I213I	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	587	Globular.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATCTTATTATAGAAAACTTTA	0.368000													60	60					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37680952	37680952	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:37680952G>A	ENST00000447079.4	+	12	3154	c.3121G>A	c.(3121-3123)Gag>Aag	p.E1041K	CDK12_ENST00000430627.2_Missense_Mutation_p.E1041K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1041					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGATTGCCATGAGTTGTGGAG	0.478000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			15	66					0	0	1	0	0
TNFSF18	8995	broad.mit.edu	37	1	173019957	173019957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:173019957C>T	ENST00000404377.3	-	1	146	c.146G>A	c.(145-147)tGg>tAg	p.W49*	RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Nonsense_Mutation_p.W27*	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	49					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GCAAAAGAGCCACAGCTTCCA	0.398000													27	7					0	0	1	0	0
SLC25A25	114789	broad.mit.edu	37	9	130830845	130830845	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:130830845G>A	ENST00000373068.2	+	1	366	c.247G>A	c.(247-249)Gag>Aag	p.E83K	SLC25A25_ENST00000373069.5_Missense_Mutation_p.E83K	NM_001006641.3	NP_001006642.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	116	EF-hand 2.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GCACCGCACCGAGGGCGAGCT	0.721000													7	4					0	0	1	0	0
NDUFAF7	55471	broad.mit.edu	37	2	37458859	37458859	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:37458859T>C	ENST00000002125.4	+	1	51	c.11T>C	c.(10-12)cTg>cCg	p.L4P	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.L4P	NM_144736.4	NP_653337.1			NADH dehydrogenase (ubiquinone) complex I, assembly factor 7																		ATGAGTGTACTGCTGAGGTCA	0.637000													13	46					0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4364174	4364174	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:4364174C>T	ENST00000269886.3	-	5	554	c.376G>A	c.(376-378)Gag>Aag	p.E126K	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Intron|SH3GL1_ENST00000417295.2_Missense_Mutation_p.E78K	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	126	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCCTTCACCTCTGCCAGGCGC	0.587000			T	MLL	AL								23	25					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174197	51174197	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:51174197C>G	ENST00000440970.1	-	2	2076	c.1645G>C	c.(1645-1647)Gcg>Ccg	p.A549P	SALL1_ENST00000251020.4_Missense_Mutation_p.A646P|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	646					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAGTCTGCCGCTGGGGAGCTC	0.622000													17	23					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65114472	65114472	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:65114472G>A	ENST00000268043.4	-	4	904	c.810C>T	c.(808-810)gcC>gcT	p.A270A	PIF1_ENST00000559239.1_Silent_p.A270A|PIF1_ENST00000333425.6_Silent_p.A270A			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	270	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TACCTGCAAAGGCATGGAGGG	0.612000													5	42					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74426949	74426949	+	Silent	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:74426949T>C	ENST00000361742.3	+	4	2623	c.1854T>C	c.(1852-1854)gcT>gcC	p.A618A	ISLR2_ENST00000453268.2_Silent_p.A618A|ISLR2_ENST00000419208.1_Silent_p.A618A|ISLR2_ENST00000435464.1_Silent_p.A618A|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.A618A|ISLR2_ENST00000445793.1_Silent_p.A618A|ISLR2_ENST00000565540.1_Silent_p.A618A	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	618					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						ATCTGCTGGCTAAACACCCGG	0.647000											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	9					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18413806	18413806	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:18413806G>A	ENST00000440756.2	-	15	2949	c.2847C>T	c.(2845-2847)gcC>gcT	p.A949A	PSD3_ENST00000327040.8_Silent_p.A947A|PSD3_ENST00000286485.8_Silent_p.A413A|PSD3_ENST00000428502.2_Silent_p.A276A|PSD3_ENST00000523619.1_Silent_p.A882A			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	948					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AGCGGTGCTCGGCCAGCTCGG	0.483000													34	77					0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542443	21542443	+	Missense_Mutation	SNP	G	G	A	rs113574695	byFrequency	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:21542443G>A	ENST00000298694.4	+	3	681	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R185Q			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	185					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ATCTGTCCACGATTTGTGCAC	0.607000													16	11					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59377984	59377984	+	Splice_Site	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:59377984G>C	ENST00000348370.4	+	10	2983	c.2550G>C	c.(2548-2550)atG>atC	p.M850I	RNF111_ENST00000559209.1_Splice_Site_p.M859I|RNF111_ENST00000557998.1_Splice_Site_p.M850I|RNF111_ENST00000434298.1_Splice_Site_p.M859I|RNF111_ENST00000561186.1_Splice_Site_p.M859I	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	850					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)		TTCCTTTAATGGTAAAATGGA	0.333000													20	37					0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38936068	38936068	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:38936068C>T	ENST00000301656.3	-	4	770	c.730G>A	c.(730-732)Gag>Aag	p.E244K		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	244	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				GCGTTCATCTCCACGTTCACG	0.512000													12	43					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78285429	78285429	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:78285429C>T	ENST00000281038.5	-	1	480	c.105G>A	c.(103-105)ggG>ggA	p.G35G		NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	35					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CGTTCTGAGCCCCGAGAGCGT	0.582000													23	76					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241050	126241050	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:126241050G>A	ENST00000394329.3	+	1	3497	c.3484G>A	c.(3484-3486)Gac>Aac	p.D1162N		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1162	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCATCAGTTTGACAGGGAGTC	0.468000													65	41					0	0	1	0	0
BDH2	56898	broad.mit.edu	37	4	104000897	104000897	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:104000897C>G	ENST00000296424.4	-	10	820	c.700G>C	c.(700-702)Ggt>Cgt	p.G234R		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	234					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		ACAGGGTTACCAGTTACATAA	0.443000													22	20					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798364	212798364	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:212798364G>T	ENST00000294829.3	+	1	576	c.145G>T	c.(145-147)Gac>Tac	p.D49Y	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	49										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ATTTGAGAGCGACTTTATCCA	0.502000													5	120					0.014758	0.0148115	1	1	0
HSPA8	3312	broad.mit.edu	37	11	122928457	122928457	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:122928457A>G	ENST00000534624.1	-	9	2202	c.1926T>C	c.(1924-1926)atT>atC	p.I642I	HSPA8_ENST00000227378.3_Silent_p.I642I|HSPA8_ENST00000532636.1_Silent_p.I642I|HSPA8_ENST00000534319.1_Silent_p.I406I|HSPA8_ENST00000526110.1_Silent_p.I623I|HSPA8_ENST00000453788.2_Silent_p.I489I|HSPA8_ENST00000533540.1_Silent_p.I496I	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	642					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAACCTCTTCAATGGTGGGCC	0.493000													21	42					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	110222999	110222999	+	Silent	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:110222999G>C	ENST00000399132.1	-	2	707	c.177C>G	c.(175-177)ctC>ctG	p.L59L	COL25A1_ENST00000399126.1_Silent_p.L59L|COL25A1_ENST00000399127.1_Silent_p.L59L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	59						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCCTCGCCTGGAGGTCGTTGG	0.607000													16	81					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88895046	88895046	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:88895046C>T	ENST00000303236.3	-	3	875	c.574G>A	c.(574-576)Gtt>Att	p.V192I	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.V41I	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	192					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ACCAAAACAACATCATCTCCA	0.398000													39	31					0	0	1	0	0
PNMA1	9240	broad.mit.edu	37	14	74179499	74179499	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:74179499C>T	ENST00000316836.3	-	1	1629	c.844G>A	c.(844-846)Gat>Aat	p.D282N		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	282					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ttatctttatcaatggccccc	0.542000													29	33					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5364282	5364282	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:5364282C>G	ENST00000225296.3	-	4	1026	c.826G>C	c.(826-828)Gtc>Ctc	p.V276L	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	276						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGACGGAGACAAGCGCGGCG	0.507000													8	80					0	0	1	0	0
CEP170P1	645455	broad.mit.edu	37	4	119475254	119475254	+	RNA	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:119475254G>A	ENST00000412784.2	+	0	965					NR_003135.2																						GTACATAAATGACTTTCTCTT	0.398000													4	13					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62550988	62550988	+	Silent	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:62550988T>C	ENST00000430451.2	+	5	1706	c.1509T>C	c.(1507-1509)caT>caC	p.H503H		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	503										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CGCTGTCTCATGGAGGGGCGC	0.547000													18	77					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95704916	95704916	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:95704916C>T	ENST00000433389.2	+	14	2022	c.1832C>T	c.(1831-1833)tCg>tTg	p.S611L	ESRP1_ENST00000358397.5_Missense_Mutation_p.S607L|ESRP1_ENST00000454170.2_Intron|ESRP1_ENST00000423620.2_Missense_Mutation_p.S607L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	611					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CCCCCAGGTTCGCCTAATAGT	0.458000													11	61					0	0	1	0	0
WDR41	55255	broad.mit.edu	37	5	76785373	76785373	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:76785373C>T	ENST00000296679.4	-	2	451	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Intron	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	26										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		GTTTGTTCTTCACCTATTGTC	0.333000													24	56					0	0	1	0	0
CLIC1	1192	broad.mit.edu	37	6	31704045	31704045	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:31704045G>A	ENST00000375780.2	-	2	605	c.33C>T	c.(31-33)ttC>ttT	p.F11F	CLIC1_ENST00000375779.2_Silent_p.F11F|CLIC1_ENST00000395892.1_Silent_p.F11F|CLIC1_ENST00000375784.3_Silent_p.F11F			O00299	CLIC1_HUMAN	chloride intracellular channel 1	11	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						TTACCTTCACGAACAATTCGA	0.602000													18	20					0	0	1	0	0
BHLHB9	80823	broad.mit.edu	37	X	102004706	102004706	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:102004706G>A	ENST00000372735.1	+	4	1368	c.783G>A	c.(781-783)gtG>gtA	p.V261V	BHLHB9_ENST00000361229.4_Silent_p.V261V|BHLHB9_ENST00000448867.1_Silent_p.V261V|BHLHB9_ENST00000447531.1_Silent_p.V261V|BHLHB9_ENST00000457056.1_Silent_p.V261V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	261						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTTTGCCTGTGGCAACAGCTT	0.512000													6	121					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51755626	51755626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:51755626G>A	ENST00000251076.5	-	33	8160	c.7873C>T	c.(7873-7875)Caa>Taa	p.Q2625*	DMXL2_ENST00000449909.3_Nonsense_Mutation_p.Q1989*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.Q2626*|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2625						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AATGTCTCTTGAAGGACCTCT	0.294000													23	69					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6472882	6472882	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:6472882C>G	ENST00000263125.5	-	17	1954	c.1855G>C	c.(1855-1857)Gag>Cag	p.E619Q	PRKCQ_ENST00000539722.1_Missense_Mutation_p.E494Q|PRKCQ_ENST00000397176.2_Missense_Mutation_p.E556Q	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	619	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AGCCTCTTCTCAGGTTCTCGC	0.587000													9	32					0	0	1	0	0
GPR146	115330	broad.mit.edu	37	7	1097680	1097680	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:1097680G>A	ENST00000397095.1	+	2	752	c.529G>A	c.(529-531)Gag>Aag	p.E177K	C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000488073.1_Intron|GPR146_ENST00000297468.3_Missense_Mutation_p.E177K|RP11-449P15.1_ENST00000549241.1_RNA|C7orf50_ENST00000397100.2_Intron			Q96CH1	GP146_HUMAN	G protein-coupled receptor 146	177						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCGCGCGCTAGAGTGCGCCAA	0.647000													14	44					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137717271	137717271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:137717271C>T	ENST00000314358.5	+	6	972	c.772C>T	c.(772-774)Caa>Taa	p.Q258*		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	258					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						TTCAGCGCCTCAAAGCGAGGT	0.438000													16	14					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101773151	101773151	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:101773151C>T	ENST00000261637.4	+	57	7573	c.7399C>T	c.(7399-7401)Cat>Tat	p.H2467Y		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2467					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)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCCCTTAGGTCATGTGCATTC	0.438000													10	53					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962531	69962531	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:69962531C>T	ENST00000305231.7	+	1	339	c.293C>T	c.(292-294)tCa>tTa	p.S98L	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.S98L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	98					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGAGATGGTCAGACCTTCCA	0.328000													26	68					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117090349	117090349	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:117090349C>T	ENST00000320934.3	-	10	1911	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	PCSK7_ENST00000540028.1_Silent_p.T68T	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	427	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CGTCACGCCACGTGAGGCAGG	0.622000			T	IGH@	MLCLS								17	29					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188216972	188216972	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:188216972T>G	ENST00000409998.1	-	14	1778	c.997A>C	c.(997-999)Aaa>Caa	p.K333Q	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.K333Q|CALCRL_ENST00000410068.1_Missense_Mutation_p.K333Q			Q16602	CALRL_HUMAN	calcitonin receptor-like	333						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CTCACAGCTTTCATGTACAGA	0.393000													29	9					0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639909	9639909	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:9639909A>G	ENST00000593003.1	-	6	1175	c.698T>C	c.(697-699)aTa>aCa	p.I233T	ZNF426_ENST00000535489.1_Missense_Mutation_p.I271T|ZNF426_ENST00000253115.2_Missense_Mutation_p.I271T			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						GAGGGTTTCTATAAGCACAGA	0.428000													75	113					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123380553	123380553	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:123380553G>C	ENST00000267202.2	-	1	438	c.57C>G	c.(55-57)aaC>aaG	p.N19K		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	19					cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CCAGCAGCTCGTTGAGCTGCA	0.716000													32	35					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112479933	112479933	+	Splice_Site	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:112479933C>A	ENST00000230538.7	-	14	2215		c.e14+1		RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Splice_Site|LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGGATATTACCTGCTCAATT	0.353000													36	34					4.62619e-21	4.93371e-21	1	1	0
CRB2	286204	broad.mit.edu	37	9	126128336	126128336	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:126128336G>A	ENST00000373631.3	+	3	560	c.559G>A	c.(559-561)Gag>Aag	p.E187K	CRB2_ENST00000359999.3_Missense_Mutation_p.E187K	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	187	EGF-like 4; calcium-binding (Potential).		E -> D.			extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGACCTCGACGAGTGCCAGAG	0.751000													6	3					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158585	58158585	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:58158585C>T	ENST00000228606.4	-	5	1124	c.915G>A	c.(913-915)caG>caA	p.Q305Q		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	305					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCAGGATGGACTGGGCAGGCA	0.622000													16	36					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45899649	45899649	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:45899649G>A	ENST00000418234.2	-	5	836	c.758C>T	c.(757-759)tCt>tTt	p.S253F	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.S253F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	253	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GTCCAGGTCAGACTCGTTCCA	0.657000													21	28					0	0	1	0	0
GPR1	2825	broad.mit.edu	37	2	207041651	207041651	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:207041651G>A	ENST00000407325.2	-	3	683	c.321C>T	c.(319-321)atC>atT	p.I107I	GPR1_ENST00000437420.1_Silent_p.I107I	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	107						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TGCACAGCCAGATGCCAAAGG	0.468000													46	20					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920778	58920778	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:58920778T>G	ENST00000528737.1	+	5	4455	c.1637T>G	c.(1636-1638)tTt>tGt	p.F546C	FAM111A_ENST00000533703.1_Missense_Mutation_p.F546C|FAM111A_ENST00000420244.1_Missense_Mutation_p.F546C|FAM111A_ENST00000361723.3_Missense_Mutation_p.F546C|FAM111A_ENST00000531147.1_Missense_Mutation_p.F546C			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	546					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TCCCCTGTGTTTGATTCAAAA	0.413000													5	127					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229536	7229536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:7229536C>T	ENST00000379938.2	+	10	1741	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*	RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q402*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q402*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q402*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	402					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)				TCAGCTACCTCAGGACCCCGG	0.607000													10	65					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143777	56143777	+	Silent	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:56143777G>C	ENST00000302270.1	+	1	678	c.678G>C	c.(676-678)ctG>ctC	p.L226L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CTGCCATCCTGAGGATGCATT	0.463000													15	56					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55266612	55266612	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:55266612G>A	ENST00000371276.4	-	1	328	c.225C>T	c.(223-225)ttC>ttT	p.F75F	TTC22_ENST00000371274.4_Silent_p.F75F	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	75							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GGTAGAATGCGAAAGCGCCCA	0.711000													8	16					0	0	1	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37032963	37032963	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:37032963A>T	ENST00000322716.5	-	1	1832	c.1606T>A	c.(1606-1608)Tcc>Acc	p.S536T		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	536						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ATTGGGTAGGATTCAGCAGAC	0.403000													4	103					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17672664	17672664	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:17672664A>T	ENST00000399839.1	-	5	1060	c.790T>A	c.(790-792)Tgg>Agg	p.W264R	CECR1_ENST00000480276.1_5'UTR|CECR1_ENST00000399837.2_Missense_Mutation_p.W264R|CECR1_ENST00000330232.4_Missense_Mutation_p.W23R|CECR1_ENST00000262607.3_Missense_Mutation_p.W264R|CECR1_ENST00000449907.2_Missense_Mutation_p.W222R	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	264					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TTCACTGACCACTCTTCGTCA	0.502000													43	86					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151893024	151893024	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:151893024G>A	ENST00000355193.2	-	28	4564	c.4346C>T	c.(4345-4347)tCa>tTa	p.S1449L	KMT2C_ENST00000262189.6_Missense_Mutation_p.S1449L					lysine (K)-specific methyltransferase 2C																		TAGATCATCTGAAATTATTCC	0.328000													56	83					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155003042	155003042	+	Silent	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:155003042G>C	ENST00000368424.3	-	6	943	c.885C>G	c.(883-885)ctC>ctG	p.L295L	DCST2_ENST00000295536.5_Silent_p.L295L	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	295						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	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)			GAGAGGCATTGAGATCCACAG	0.597000													39	16					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008729	41008729	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:41008729A>G	ENST00000352632.3	+	11	1337	c.1251A>G	c.(1249-1251)ctA>ctG	p.L417L	SPTBN4_ENST00000598249.1_Silent_p.L417L|SPTBN4_ENST00000344104.3_Silent_p.L417L|SPTBN4_ENST00000595535.1_Silent_p.L417L|SPTBN4_ENST00000338932.3_Silent_p.L417L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	417					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGCTGCCCTACGGGCTGAGC	0.582000													13	74					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39949686	39949686	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:39949686A>T	ENST00000599117.1	+	8	798	c.431A>T	c.(430-432)aAa>aTa	p.K144I	SUPT5H_ENST00000598725.1_Missense_Mutation_p.K144I|SUPT5H_ENST00000402194.2_Missense_Mutation_p.K140I|SUPT5H_ENST00000432763.2_Missense_Mutation_p.K144I|SUPT5H_ENST00000359191.6_Missense_Mutation_p.K140I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	144					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)			TACATGAAGAAATACGCCAAG	0.582000													5	105					0	0	1	0	0
CUTC	51076	broad.mit.edu	37	10	101514316	101514316	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:101514316G>C	ENST00000370476.5	+	8	761	c.632G>C	c.(631-633)aGg>aCg	p.R211T		NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	211					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		AATCTACAAAGGATCCTTGAG	0.363000													16	207					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56496099	56496099	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:56496099G>A	ENST00000370754.5	-	29	3952	c.3953C>T	c.(3952-3954)tCt>tTt	p.S1318F	DST_ENST00000370765.6_Missense_Mutation_p.S814F|DST_ENST00000370788.2_Missense_Mutation_p.S1140F|DST_ENST00000421834.2_Missense_Mutation_p.S1140F|DST_ENST00000361203.3_Missense_Mutation_p.S1140F|DST_ENST00000446842.2_Missense_Mutation_p.S814F|DST_ENST00000518935.1_Missense_Mutation_p.S814F|DST_ENST00000312431.6_Missense_Mutation_p.S1140F|DST_ENST00000244364.6_Missense_Mutation_p.S814F|DST_ENST00000370769.4_Missense_Mutation_p.S1140F			Q03001	DYST_HUMAN	dystonin	1140					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GACTGATGAAGAGGCTGCTGC	0.383000													10	56					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55713462	55713462	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:55713462C>T	ENST00000376350.3	-	6	1137	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	PTPRH_ENST00000263434.5_Missense_Mutation_p.G194E|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	372	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCTGTTGATTCCATTCTTCCC	0.502000													52	70					0	0	1	0	0
TRIM25	7706	broad.mit.edu	37	17	54991060	54991060	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:54991060G>A	ENST00000316881.4	-	1	339	c.290C>T	c.(289-291)tCt>tTt	p.S97F	TRIM25_ENST00000537230.1_Missense_Mutation_p.S97F	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	97					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCTGGGTGCAGAGGCGCGGGC	0.687000													13	3					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183601696	183601696	+	Splice_Site	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:183601696C>T	ENST00000511685.1	+	10	1763	c.1640C>T	c.(1639-1641)gCc>gTc	p.A547V	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Splice_Site_p.A547V					teneurin transmembrane protein 3																		TGTTTCACAGCCGCCTGTCCA	0.547000													12	62					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7570715	7570715	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:7570715C>T	ENST00000379802.3	+	13	1961	c.1620C>T	c.(1618-1620)ctC>ctT	p.L540L	DSP_ENST00000418664.2_Silent_p.L540L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	540	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGAACCAGCTCTACATCAACA	0.498000													86	46					0	0	1	0	0
METTL2A	339175	broad.mit.edu	37	17	60503817	60503817	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:60503817G>C	ENST00000311506.5	+	3	396	c.360G>C	c.(358-360)aaG>aaC	p.K120N		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	120							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGGAGAACAAGAGTGAAGTAC	0.398000													7	55					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147694884	147694884	+	Silent	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:147694884C>G	ENST00000367481.3	+	24	3099	c.2991C>G	c.(2989-2991)ctC>ctG	p.L997L	STXBP5_ENST00000367480.3_Silent_p.L980L|STXBP5_ENST00000179882.6_Silent_p.L688L|STXBP5_ENST00000321680.6_Silent_p.L1033L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1033					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TGGGTGAACTCTTCACTCCTG	0.363000													3	55					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27745512	27745512	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:27745512C>T	ENST00000430629.2	-	3	423	c.208G>A	c.(208-210)Gag>Aag	p.E70K	WASF2_ENST00000536657.1_Missense_Mutation_p.E70K	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	70					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TCGACCCTCTCAGCAAGGGAG	0.483000													20	49					0	0	1	0	0
SLC11A2	4891	broad.mit.edu	37	12	51389533	51389533	+	Missense_Mutation	SNP	C	C	G	rs17222449		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:51389533C>G	ENST00000394904.3	-	10	1005	c.956G>C	c.(955-957)cGa>cCa	p.R319P	SLC11A2_ENST00000545993.2_Missense_Mutation_p.R286P|SLC11A2_ENST00000262052.5_Missense_Mutation_p.R290P|SLC11A2_ENST00000262051.7_Missense_Mutation_p.R290P|SLC11A2_ENST00000541174.2_Missense_Mutation_p.R290P|SLC11A2_ENST00000546743.1_Missense_Mutation_p.R211P|SLC11A2_ENST00000547688.1_Missense_Mutation_p.R319P|SLC11A2_ENST00000547198.1_Missense_Mutation_p.R290P	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	290					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ATTGGCTTCTCGAACTTCCTG	0.373000													4	61					0	0	1	0	0
SUCLG2	8801	broad.mit.edu	37	3	67548585	67548585	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:67548585C>T	ENST00000307227.5	-	8	919	c.892G>A	c.(892-894)Gga>Aga	p.G298R	SUCLG2_ENST00000492795.1_Missense_Mutation_p.G298R|SUCLG2_ENST00000493112.1_Missense_Mutation_p.G298R	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	298					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CCATCTAGTCCTATGTATTTT	0.358000													26	72					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123734244	123734244	+	Silent	SNP	G	G	A	rs139210706		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:123734244G>A	ENST00000223642.1	-	31	4073	c.4044C>T	c.(4042-4044)gtC>gtT	p.V1348V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1348					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ATCCTGTACTGACAATGAGGT	0.368000													14	52					0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086306	53086306	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:53086306G>A	ENST00000540331.1	+	5	1417	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.D398N|ZNF701_ENST00000391785.3_Missense_Mutation_p.D332N	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGAAGAATGTGACAAAGTTTT	0.383000													21	118					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1559092	1559092	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:1559092T>A	ENST00000381605.4	-	2	389	c.325A>T	c.(325-327)Aac>Tac	p.N109Y	SIRPB1_ENST00000381603.3_Missense_Mutation_p.N109Y|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.N109Y|SIRPB1_ENST00000262929.5_Missense_Mutation_p.N108Y	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	109	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGGGTGATGTTACTGATGCTG	0.498000													38	165					0	0	1	0	0
RP11-15H20.7	0	broad.mit.edu	37	19	23456883	23456883	+	RNA	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:23456883C>T	ENST00000594653.1	-	0	151																											CTCACCTTTTCCCAGCTTCCA	0.657000													4	6					0	0	1	0	0
RNASEH2C	84153	broad.mit.edu	37	11	65487536	65487536	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:65487536A>C	ENST00000308418.4	-	3	636	c.448T>G	c.(448-450)Tgg>Ggg	p.W150G	RNASEH2C_ENST00000527610.1_Missense_Mutation_p.W150G|RNASEH2C_ENST00000528220.1_Missense_Mutation_p.W67G	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	150					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						AGGCTGGGCCAAGTTAAGGCC	0.637000													38	33					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37956083	37956083	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:37956083C>T	ENST00000436072.2	-	1	434	c.57G>A	c.(55-57)gtG>gtA	p.V19V	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	19	FZ.			V -> M (in Ref. 5; CAG46532).	brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCGCGCCGCGCACGCCCAGCG	0.687000													4	50					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86627281	86627281	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:86627281C>T	ENST00000456692.2	+	2	240	c.125C>T	c.(124-126)tCa>tTa	p.S42L	RASA1_ENST00000512763.1_Missense_Mutation_p.S52L|RASA1_ENST00000274376.6_Missense_Mutation_p.S219L|RASA1_ENST00000506290.1_Missense_Mutation_p.S53L	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	219					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TTTGTACTTTCATTTCTTAGC	0.388000													21	47					0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	195415	195415	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:195415G>T	ENST00000328278.3	+	2	1520	c.1492G>T	c.(1492-1494)Gct>Tct	p.A498S		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	498										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CTTGCTGCAAGCTTTCAAAAC	0.473000													5	84					0.014758	0.0148115	1	1	0
FLOT2	2319	broad.mit.edu	37	17	27207779	27207779	+	Silent	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:27207779G>C	ENST00000394906.2	-	12	1442	c.1365C>G	c.(1363-1365)gcC>gcG	p.A455A	FLOT2_ENST00000585169.1_Silent_p.A400A|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Silent_p.A400A			Q14254	FLOT2_HUMAN	flotillin 2	400					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CAGGCAGCTCGGCCAGCAGTC	0.587000													5	80					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6476042	6476042	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:6476042G>A	ENST00000297056.6	-	3	539	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000421761.2_Intron|DAGLB_ENST00000425398.2_Nonsense_Mutation_p.Q124*|DAGLB_ENST00000428902.2_Intron|DAGLB_ENST00000436575.1_Nonsense_Mutation_p.Q83*	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	124					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CTGTCGCACTGAACACCATCT	0.537000													76	49					0	0	1	0	0
IGKV4-1	28908	broad.mit.edu	37	2	89185609	89185609	+	RNA	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:89185609C>G	ENST00000390243.2	+	0	478																											CTCTCACCATCAGCAGCCTGC	0.532000													41	42					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275799	150275799	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:150275799G>A	ENST00000446148.2	-	7	1477	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	ZNF300_ENST00000274599.5_Silent_p.F334F|ZNF300_ENST00000418587.2_Silent_p.F298F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Silent_p.F334F	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTCTGAGAGAAGGCTTTTC	0.433000													21	72					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60888194	60888194	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:60888194C>T	ENST00000252999.3	-	65	8971	c.8905G>A	c.(8905-8907)Gag>Aag	p.E2969K		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2969	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCGCAGCTCCTGCTCGAAG	0.667000													8	10					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238723	3238723	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:3238723G>A	ENST00000217939.6	-	5	5157	c.5003C>T	c.(5002-5004)tCa>tTa	p.S1668L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1668						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)				TGTTGTACTTGATAATCTTGG	0.438000													111	100					0	0	1	0	0
HCAR3	8843	broad.mit.edu	37	12	123200184	123200184	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:123200184C>A	ENST00000528880.2	-	1	1255	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	367						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	AATGTCCCTTCTTGGAATGGT	0.522000													37	154					4.92203e-23	5.27462e-23	1	1	0
EML2	24139	broad.mit.edu	37	19	46141846	46141846	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:46141846C>T	ENST00000536630.1	-	6	675	c.537G>A	c.(535-537)atG>atA	p.M179I	EML2_ENST00000587152.1_Missense_Mutation_p.M233I|EML2_ENST00000589876.1_Missense_Mutation_p.M32I|EML2_ENST00000245925.3_Missense_Mutation_p.M32I	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	32					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CTGGGATCATCATGGGCACAG	0.612000													20	44					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518386	123518386	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:123518386A>G	ENST00000422452.2	-	30	6458	c.6395T>C	c.(6394-6396)aTt>aCt	p.I2132T	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.I2125T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ATCATATTGAATGGTCATCCA	0.398000													43	86					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537811	55537811	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:55537811G>C	ENST00000220676.1	+	4	1517	c.1369G>C	c.(1369-1371)Gtg>Ctg	p.V457L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	457					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTAAGAAGAGTGAGACAAAA	0.418000													13	56					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117681187	117681187	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:117681187G>C	ENST00000317775.6	-	19	3562	c.2877C>G	c.(2875-2877)aaC>aaG	p.N959K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.N993K	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	959					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGAGGGAATTGTTGGCCTTTT	0.512000													56	49					0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70406666	70406666	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:70406666G>T	ENST00000264434.2	-	4	1311	c.932C>A	c.(931-933)tCt>tAt	p.S311Y	C2orf42_ENST00000420306.1_Missense_Mutation_p.S311Y	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	311										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ACTCTTACCAGATACTTCATC	0.388000													11	52					0.00829132	0.00835928	1	1	0
SLC8A2	6543	broad.mit.edu	37	19	47941126	47941126	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:47941126C>G	ENST00000236877.6	-	7	2385	c.1990G>C	c.(1990-1992)Gag>Cag	p.E664Q	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Missense_Mutation_p.E420Q|SLC8A2_ENST00000539381.1_Missense_Mutation_p.E127Q	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	664					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TATGACTCCTCGATGATGACC	0.577000													19	81					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1391441	1391441	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:1391441G>A	ENST00000324385.5	+	8	945	c.787G>A	c.(787-789)Gag>Aag	p.E263K	BAIAP3_ENST00000397489.1_Missense_Mutation_p.E245K|BAIAP3_ENST00000421665.2_Missense_Mutation_p.E228K|BAIAP3_ENST00000568887.1_Missense_Mutation_p.E200K|BAIAP3_ENST00000562208.1_Missense_Mutation_p.E205K|BAIAP3_ENST00000426824.3_Missense_Mutation_p.E228K|BAIAP3_ENST00000397488.2_Missense_Mutation_p.E245K	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	263	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCAGGTCACCGAGGTGAAGAG	0.687000													20	47					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67753908	67753908	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr18:67753908G>A	ENST00000255674.6	-	32	4601	c.4315C>T	c.(4315-4317)Ctt>Ttt	p.L1439F	RTTN_ENST00000437017.1_Missense_Mutation_p.L1439F|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1439							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGATTCTGAAGAATAAATGCC	0.294000													42	65					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41341607	41341607	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:41341607C>T	ENST00000422280.1	+	8	942	c.483C>T	c.(481-483)ttC>ttT	p.F161F	NBR1_ENST00000341165.6_Silent_p.F161F|NBR1_ENST00000590996.1_Silent_p.F161F|NBR1_ENST00000589872.1_Silent_p.F161F|NBR1_ENST00000542611.1_Silent_p.F140F|NBR1_ENST00000389312.4_Silent_p.F161F	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	161					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TATTCTAGTTCAGAGAACAAG	0.393000													3	49					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934705	4934705	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:4934705C>G	ENST00000345988.2	-	22	4040	c.3951G>C	c.(3949-3951)gaG>gaC	p.E1317D	PPL_ENST00000590782.2_Missense_Mutation_p.E1315D	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1317					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTTCTGCTCCTCTGAGAGCT	0.567000													59	105					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30687649	30687649	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:30687649G>A	ENST00000394670.4	+	4	509	c.340G>A	c.(340-342)Gat>Aat	p.D114N	ZNF207_ENST00000577908.1_Missense_Mutation_p.D114N|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000342555.6_Missense_Mutation_p.D117N|ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000394673.2_Missense_Mutation_p.D114N|ZNF207_ENST00000321233.6_Missense_Mutation_p.D114N	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	114						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGATGATTCTGATGAATATGA	0.343000													8	29					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328449	137328449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:137328449C>T	ENST00000540193.1	+	9	2010	c.1087C>T	c.(1087-1089)Caa>Taa	p.Q363*	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Nonsense_Mutation_p.Q460*			P19793	RXRA_HUMAN	retinoid X receptor, alpha	460	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GGCGCCGCACCAAATGACTTA	0.597000													21	27					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234359	8234359	+	Silent	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:8234359C>A	ENST00000520004.1	-	3	1824	c.1560G>T	c.(1558-1560)ggG>ggT	p.G520G	SGK223_ENST00000330777.4_Silent_p.G520G			Q86YV5	SG223_HUMAN		520							ATP binding|non-membrane spanning protein tyrosine kinase activity										TGGAGCTCAGCCCCTGCCCAG	0.632000													7	23					8.12818e-05	8.293e-05	1	1	0
MIS18A	54069	broad.mit.edu	37	21	33651105	33651105	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr21:33651105G>A	ENST00000290130.3	-	1	275	c.221C>T	c.(220-222)gCg>gTg	p.A74V	MIS18A-AS1_ENST00000453549.1_RNA	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	74					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CTCCGCAGCCGCCGCCTCCTC	0.701000													6	7					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2058390	2058390	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:2058390G>A	ENST00000280665.6	-	8	1714	c.1635C>T	c.(1633-1635)ctC>ctT	p.L545L	DCP1B_ENST00000397173.4_Silent_p.L443L	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	545					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			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CCACAGGCAAGAGGCCGCTCT	0.647000													10	25					0	0	1	0	0
NANOS3	342977	broad.mit.edu	37	19	13991286	13991286	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:13991286C>T	ENST00000397555.2	+	3	491	c.491C>T	c.(490-492)tCg>tTg	p.S164L	NANOS3_ENST00000339133.5_Missense_Mutation_p.S183L|NANOS3_ENST00000591727.1_3'UTR	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	164					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	p.S183L(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCTGAGCCTTCGCCCTCCTGC	0.612000											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	43					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273326	125273326	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:125273326G>A	ENST00000335302.5	+	1	246	c.246G>A	c.(244-246)ctG>ctA	p.L82L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTAAGATGCTGATGGACATGC	0.433000													44	74					0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850700	71850700	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:71850700T>G	ENST00000445078.2	+	5	754	c.683T>G	c.(682-684)cTt>cGt	p.L228R	FOLR3_ENST00000456237.1_Missense_Mutation_p.L230R|FOLR3_ENST00000442948.2_Missense_Mutation_p.L187R			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	186					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CCAGCCGCCCTTTGTGAAGGC	0.592000													4	43					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62986435	62986435	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:62986435C>T	ENST00000393630.3	+	36	5454	c.5063C>T	c.(5062-5064)tCt>tTt	p.S1688F	MON2_ENST00000546600.1_3'UTR|MON2_ENST00000551397.1_Missense_Mutation_p.S61F|MON2_ENST00000393629.2_Missense_Mutation_p.S1681F|MON2_ENST00000552738.1_Missense_Mutation_p.S1658F|MON2_ENST00000393632.2_Missense_Mutation_p.S1687F	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1688					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ACCTGTTCTTCTTCAGAAGTC	0.408000													35	60					0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140012504	140012504	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:140012504G>C	ENST00000302014.6	-	2	694	c.65C>G	c.(64-66)cCa>cGa	p.P22R	CD14_ENST00000401743.2_Missense_Mutation_p.P22R	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	22					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGGTTCTGGCGTGGTCGC	0.612000													10	24					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56470602	56470602	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:56470602C>T	ENST00000370754.5	-	39	8724	c.8725G>A	c.(8725-8727)Gat>Aat	p.D2909N	DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.D2731N|DST_ENST00000446842.2_Missense_Mutation_p.D2405N|DST_ENST00000312431.6_Missense_Mutation_p.D2731N|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.D2731N			Q03001	DYST_HUMAN	dystonin	2731					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTATTATTATCATGTGAAATA	0.353000													13	36					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8518314	8518314	+	Silent	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:8518314T>C	ENST00000381196.4	-	18	1620	c.1077A>G	c.(1075-1077)aaA>aaG	p.K359K	PTPRD_ENST00000397606.3_Silent_p.K349K|PTPRD_ENST00000540109.1_Silent_p.K359K|PTPRD_ENST00000397611.3_Silent_p.K356K|PTPRD_ENST00000537002.1_Silent_p.K356K|PTPRD_ENST00000360074.4_Silent_p.K346K|PTPRD_ENST00000397617.3_Silent_p.K349K|PTPRD_ENST00000358503.5_Silent_p.K346K|PTPRD_ENST00000355233.5_Silent_p.K359K|PTPRD_ENST00000486161.1_Silent_p.K359K|PTPRD_ENST00000356435.5_Silent_p.K359K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	359	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTTTTTAGGTTTATGCTGAA	0.473000										TSP Lung(15;0.13)			9	76					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60799942	60799942	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:60799942G>A	ENST00000544856.2	-	9	2496	c.2118C>T	c.(2116-2118)gcC>gcT	p.A706A	RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Silent_p.A745A|MARCH10_ENST00000456609.2_Silent_p.A707A|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000311269.5_Silent_p.A707A|RP11-156L14.1_ENST00000579201.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	707							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AGGTCTTCACGGCACCAAGAT	0.433000													7	34					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49719324	49719324	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:49719324C>T	ENST00000551245.1	+	4	489	c.378C>T	c.(376-378)gcC>gcT	p.A126A	TROAP_ENST00000257909.3_Silent_p.A126A			Q12815	TROAP_HUMAN	trophinin associated protein	126					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						ACCCTGCAGCCCTGGCCACCA	0.592000													29	31					0	0	1	0	0
RNF181	51255	broad.mit.edu	37	2	85822917	85822917	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:85822917G>A	ENST00000441634.1	+	1	70	c.31G>A	c.(31-33)Gag>Aag	p.E11K	RNF181_ENST00000306368.4_Missense_Mutation_p.E11K			Q9P0P0	RN181_HUMAN	ring finger protein 181	11							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						ACACGACTGCGAGCCGTCGGA	0.627000													17	15					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71101729	71101729	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:71101729G>A	ENST00000318789.4	-	9	994	c.469C>T	c.(469-471)Caa>Taa	p.Q157*	FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q157*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q159*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q157*|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q157*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q157*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	157	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	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(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGTAAAAGTTGAAGCTGCAAC	0.418000			T	PAX5	ALL								45	28					0	0	1	0	0
FLT3LG	2323	broad.mit.edu	37	19	49982225	49982225	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:49982225C>T	ENST00000595510.1	+	5	457	c.156C>T	c.(154-156)acC>acT	p.T52T	CTD-3148I10.9_ENST00000599536.1_Intron|CTD-3148I10.15_ENST00000595815.1_RNA|FLT3LG_ENST00000594009.1_Silent_p.T134T|FLT3LG_ENST00000597551.1_Silent_p.T134T|FLT3LG_ENST00000596435.1_Silent_p.T116T|FLT3LG_ENST00000204637.2_Silent_p.T52T|FLT3LG_ENST00000600429.1_Silent_p.T134T|FLT3LG_ENST00000344019.3_Silent_p.T134T			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	134					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		TGCAGGAGACCTCCGAGCAGC	0.662000													5	2					0	0	1	0	0
VGLL2	245806	broad.mit.edu	37	6	117589356	117589356	+	Silent	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:117589356T>C	ENST00000326274.5	+	2	283	c.93T>C	c.(91-93)taT>taC	p.Y31Y	VGLL2_ENST00000352536.3_Silent_p.Y31Y	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	31					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		AACTAGCCTATTATTCCAAAA	0.473000													62	166					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23646595	23646595	+	Silent	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:23646595G>C	ENST00000261584.4	-	4	1424	c.1272C>G	c.(1270-1272)gcC>gcG	p.A424A		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	424					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGCCTCCACGGCTACTTTCC	0.378000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					33	73					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72949733	72949733	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:72949733C>T	ENST00000425042.2	-	15	1955	c.1878G>A	c.(1876-1878)ctG>ctA	p.L626L		NM_030630.2	NP_085133.1			HID1 domain containing																		ACTTCTCGGTCAGCTTGTCAA	0.587000													18	16					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12447409	12447409	+	Silent	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:12447409C>G	ENST00000397026.2	+	7	965	c.582C>G	c.(580-582)gcC>gcG	p.A194A	PPARG_ENST00000397000.1_Silent_p.A188A|PPARG_ENST00000287820.6_Silent_p.A216A|PPARG_ENST00000397010.2_Silent_p.A188A|PPARG_ENST00000397012.2_Silent_p.A188A|PPARG_ENST00000397015.2_Silent_p.A188A|PPARG_ENST00000539812.1_Silent_p.A186A|PPARG_ENST00000309576.6_Silent_p.A188A			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	216					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TGCCACAGGCCGAGAAGGAGA	0.517000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						4	95					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949593	235949593	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:235949593G>A	ENST00000409212.1	+	4	687	c.180G>A	c.(178-180)gtG>gtA	p.V60V	SH3BP4_ENST00000344528.4_Silent_p.V60V|SH3BP4_ENST00000392011.2_Silent_p.V60V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	60	SH3.				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)		CAAAGGAAGTGATTGCGATCA	0.517000													18	29					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80752117	80752117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:80752117C>T	ENST00000458043.2	+	49	6088	c.6082C>T	c.(6082-6084)Cag>Tag	p.Q2028*	OTOGL_ENST00000547103.1_Nonsense_Mutation_p.Q2016*|OTOGL_ENST00000546620.1_Nonsense_Mutation_p.Q47*	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGTTGTCCTCAGTATTACTG	0.368000													9	11					0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145895210	145895210	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:145895210G>A	ENST00000311104.2	-	1	543	c.467C>T	c.(466-468)tCa>tTa	p.S156L		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	156						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCAGCACTGACCAGATGGT	0.527000													16	63					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248457958	248457958	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:248457958T>G	ENST00000317996.1	-	1	922	c.923A>C	c.(922-924)aAc>aCc	p.N308T		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GTGTTTTAGGTTTACACACGT	0.418000													41	231					0	0	1	0	0
CRKL	1399	broad.mit.edu	37	22	21272283	21272283	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:21272283C>T	ENST00000354336.3	+	1	570	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	21	SH2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GCCGGTGTCTCGCCAGGAGGC	0.687000													26	37					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136888833	136888833	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:136888833C>T	ENST00000359015.4	-	26	4057	c.3697G>A	c.(3697-3699)Gat>Aat	p.D1233N	MAP3K5_ENST00000355845.4_Missense_Mutation_p.D480N	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1233					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTCTGGGAATCATGAGACACA	0.478000													16	18					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49755909	49755909	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:49755909C>T	ENST00000535833.1	-	10	4440	c.990G>A	c.(988-990)gcG>gcA	p.A330A	RNF123_ENST00000433785.1_Intron|RNF123_ENST00000497099.1_3'UTR|AMIGO3_ENST00000320431.7_Silent_p.A330A|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000327697.6_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	330	Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGGCCAGCACCGCGATGCTGC	0.662000													17	45					0	0	1	0	0
ANKRD37	353322	broad.mit.edu	37	4	186318341	186318341	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:186318341C>T	ENST00000335174.4	+	2	505	c.65C>T	c.(64-66)tCg>tTg	p.S22L	ANKRD37_ENST00000507479.1_3'UTR	NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	22						cytoplasm|nucleus				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		ACAGGGGCCTCGGTCAACGCA	0.627000													20	21					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53164874	53164874	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:53164874G>A	ENST00000332411.2	-	7	1446	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	465	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TAGTCACGCAGGAGCCGAGCC	0.607000													31	54					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100192154	100192154	+	Silent	SNP	C	C	G	rs151320882		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:100192154C>G	ENST00000241071.6	+	6	1264	c.942C>G	c.(940-942)ctC>ctG	p.L314L	FBXO24_ENST00000360609.2_Silent_p.L300L|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.L300L|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000427939.2_Silent_p.L352L|FBXO24_ENST00000468962.1_Silent_p.L302L	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	314						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCAGCACCCTCTACGTCACAG	0.602000													23	27					0	0	1	0	0
NKX6-1	4825	broad.mit.edu	37	4	85414558	85414558	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:85414558G>C	ENST00000295886.4	-	3	1209	c.988C>G	c.(988-990)Ctg>Gtg	p.L330V	NKX6-1_ENST00000515820.2_Missense_Mutation_p.L56V	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	330	Involved in DNA-binding (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TTGGGATCCAGAGGCTTATTG	0.622000													25	147					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581249	82581249	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:82581249T>A	ENST00000333891.9	-	5	9357	c.9020A>T	c.(9019-9021)tAt>tTt	p.Y3007F	PCLO_ENST00000423517.2_Missense_Mutation_p.Y3007F	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTACTTTTATAGAAAAAATG	0.413000													12	175					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405405	135405405	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:135405405G>A	ENST00000394143.1	+	5	830	c.539G>A	c.(538-540)gGc>gAc	p.G180D	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.G117D|GPR112_ENST00000370652.1_Missense_Mutation_p.G180D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	180					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCTTTCCTGGCAGCTTGTAC	0.453000													11	121					0	0	1	0	0
MBOAT2	129642	broad.mit.edu	37	2	9028153	9028153	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:9028153T>C	ENST00000305997.3	-	5	644	c.446A>G	c.(445-447)cAt>cGt	p.H149R	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	149					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTACCATCATGAATTTCGCA	0.279000													197	143					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123179192	123179192	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:123179192C>T	ENST00000371160.1	+	8	931	c.641C>T	c.(640-642)gCa>gTa	p.A214V	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.A214V|STAG2_ENST00000371144.3_Missense_Mutation_p.A214V|STAG2_ENST00000371145.3_Missense_Mutation_p.A214V|STAG2_ENST00000218089.9_Missense_Mutation_p.A214V|STAG2_ENST00000354548.5_Missense_Mutation_p.A145V	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	214					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAAGTCAGAGCATTTCGACAT	0.353000													129	138					0	0	1	0	0
NT5C3A	51251	broad.mit.edu	37	7	33057159	33057159	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:33057159G>C	ENST00000396152.2	-	8	785	c.483C>G	c.(481-483)ttC>ttG	p.F161L	NT5C3A_ENST00000409467.1_Missense_Mutation_p.F149L|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000405342.1_Missense_Mutation_p.F161L|NT5C3A_ENST00000242210.7_Missense_Mutation_p.F200L|NT5C3A_ENST00000381626.2_Missense_Mutation_p.F149L|NT5C3A_ENST00000409787.1_Missense_Mutation_p.F161L|NT5C3A_ENST00000610140.1_Missense_Mutation_p.F195L	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA																		CCGAAAATATGAACACGGGGA	0.378000													39	76					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095542	103095542	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:103095542G>A	ENST00000295269.4	+	2	958	c.501G>A	c.(499-501)ctG>ctA	p.L167L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	167					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGGGGGCCCTGATCAACGCCT	0.612000													26	19					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44305179	44305179	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:44305179C>A	ENST00000264664.4	-	3	659	c.545G>T	c.(544-546)gGa>gTa	p.G182V		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	182					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCTCCTTTTCCATTCAATGC	0.438000													16	178					4.7546e-09	4.93747e-09	1	1	0
EBLN2	55096	broad.mit.edu	37	3	73111736	73111736	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:73111736C>T	ENST00000533473.1	+	1	927	c.504C>T	c.(502-504)ttC>ttT	p.F168F	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	168							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTAGCAGATTCAAAGATATGC	0.453000													20	48					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616589	116616589	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:116616589T>C	ENST00000395715.3	-	4	2184	c.1607A>G	c.(1606-1608)tAt>tGt	p.Y536C	TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000520276.1_Missense_Mutation_p.Y527C|TRPS1_ENST00000519674.1_Missense_Mutation_p.Y523C|TRPS1_ENST00000220888.5_Missense_Mutation_p.Y523C	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	523					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGACAATTATAGCTCGTTAC	0.458000									Langer-Giedion syndrome				30	226					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76788464	76788464	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:76788464G>C	ENST00000287239.4	+	18	4371	c.3882G>C	c.(3880-3882)gaG>gaC	p.E1294D	KAT6B_ENST00000372725.1_Missense_Mutation_p.E1002D|KAT6B_ENST00000372711.1_Missense_Mutation_p.E1111D|KAT6B_ENST00000372724.1_Missense_Mutation_p.E1002D|KAT6B_ENST00000372714.1_Missense_Mutation_p.E1002D	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1294					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										AACAGAAGGAGACTTCAGAAG	0.498000													39	25					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26107895	26107895	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:26107895C>T	ENST00000313735.6	-	9	1135	c.902G>A	c.(901-903)cGc>cAc	p.R301H		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	301					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CACATCGAAGCGGCCGTACTT	0.627000													20	23					0	0	1	0	0
ACTR2	10097	broad.mit.edu	37	2	65467076	65467076	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:65467076G>A	ENST00000260641.5	+	2	296	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	ACTR2_ENST00000377982.4_Missense_Mutation_p.V47M|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000542850.1_5'UTR	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	47					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						AACCACCAAAGTGGGAAACAT	0.338000													78	36					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088862	43088862	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:43088862G>A	ENST00000359467.3	-	5	1650	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GATGCCTGGTGAGTACTGACT	0.388000													52	76					0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20783614	20783614	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:20783614C>G	ENST00000405555.3	-	9	1508	c.1438G>C	c.(1438-1440)Ggg>Cgg	p.G480R	SCARF2_ENST00000266214.5_Missense_Mutation_p.G485R	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	480					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)			TTCTTCCTCCCAAGCGAAAGC	0.687000													10	65					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942478	11942478	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:11942478G>A	ENST00000304060.5	+	4	651	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAGAACACAAGAAAGGGATCA	0.423000													42	162					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316774	30316774	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:30316774G>A	ENST00000375377.1	-	3	2404	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	768										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CACGGACAAGGAAGTCCTTGA	0.612000													22	45					0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62929393	62929393	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:62929393G>C	ENST00000393630.3	+	14	2195	c.1804G>C	c.(1804-1806)Gat>Cat	p.D602H	MON2_ENST00000546600.1_Missense_Mutation_p.D602H|MON2_ENST00000393629.2_Missense_Mutation_p.D602H|MON2_ENST00000280379.6_Missense_Mutation_p.D602H|MON2_ENST00000552738.1_Missense_Mutation_p.D602H|MON2_ENST00000393632.2_Missense_Mutation_p.D602H|MON2_ENST00000552115.1_Missense_Mutation_p.D602H	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	602					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AACTTCAAGAGATGCCTTTAT	0.418000													14	79					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69950120	69950120	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:69950120G>A	ENST00000355303.5	+	4	861	c.556G>A	c.(556-558)Gag>Aag	p.E186K	ANO1_ENST00000530676.1_Missense_Mutation_p.E70K|ANO1_ENST00000398543.2_Missense_Mutation_p.E70K|ANO1_ENST00000538023.1_Missense_Mutation_p.E186K|ANO1_ENST00000316296.5_Missense_Mutation_p.E158K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	186					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCACATTAATGAGACCCGTGG	0.532000													5	10					0	0	1	0	0
SRSF8	10929	broad.mit.edu	37	11	94801072	94801072	+	RNA	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:94801072C>T	ENST00000529911.1	+	0	712					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding										AAATCGAGCTCTGCGCGACGA	0.572000													17	39					0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30018236	30018236	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:30018236C>G	ENST00000350119.4	-	8	938	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	DOC2A_ENST00000564979.1_Missense_Mutation_p.E250Q|DOC2A_ENST00000564944.1_Missense_Mutation_p.E250Q	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	250	Interaction with UNC13D.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCACGCTCCTCCAGCAGCCCC	0.692000													9	17					0	0	1	0	0
FAM43A	131583	broad.mit.edu	37	3	194407685	194407685	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:194407685G>A	ENST00000329759.4	+	1	1064	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	44										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		GGCGTGCCCCGAAGGCGCGCT	0.682000													15	19					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162762367	162762367	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:162762367A>G	ENST00000375514.5	+	15	2197	c.1910A>G	c.(1909-1911)cAt>cGt	p.H637R	SLC4A10_ENST00000272716.5_Missense_Mutation_p.H626R|SLC4A10_ENST00000446997.1_Missense_Mutation_p.H656R|SLC4A10_ENST00000421911.1_Missense_Mutation_p.H656R|SLC4A10_ENST00000415876.2_Missense_Mutation_p.H626R	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	656					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCAACATGCATAATGATCTG	0.388000													9	101					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42191759	42191759	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:42191759G>A	ENST00000401548.3	+	30	3727	c.3687G>A	c.(3685-3687)ctG>ctA	p.L1229L	MEI1_ENST00000400107.1_Silent_p.L562L|MEI1_ENST00000300398.4_Silent_p.L193L|MEI1_ENST00000476893.1_3'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	1229							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGGGACACCTGGCTGACCACA	0.627000													20	16					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114294533	114294533	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:114294533C>T	ENST00000357077.4	+	45	11840	c.11787C>T	c.(11785-11787)aaC>aaT	p.N3929N	ANK2_ENST00000509550.1_Silent_p.N1020N|ANK2_ENST00000510275.2_Silent_p.N527N|ANK2_ENST00000264366.6_Silent_p.N3896N|ANK2_ENST00000394537.3_Silent_p.N1844N|ANK2_ENST00000506722.1_Silent_p.N1835N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3896					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACCTGTCAACATCGAGGAAG	0.448000													45	35					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17469955	17469955	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:17469955A>C	ENST00000253692.7	-	4	1818	c.154T>G	c.(154-156)Ttt>Gtt	p.F52V	TBC1D5_ENST00000429383.4_Missense_Mutation_p.F52V|TBC1D5_ENST00000446818.2_Missense_Mutation_p.F52V|TBC1D5_ENST00000414318.2_Intron	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	52						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TAGGAATTAAAAGTCCCTTCA	0.264000													49	34					0	0	1	0	0
TIGD7	91151	broad.mit.edu	37	16	3349394	3349394	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:3349394T>G	ENST00000396862.1	-	2	3049	c.1221A>C	c.(1219-1221)gaA>gaC	p.E407D	TIGD7_ENST00000268674.2_Missense_Mutation_p.E407D	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	407					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CATATTCAGGTTCCTTTTTGT	0.338000													15	160					0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40499176	40499176	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:40499176G>A	ENST00000280871.4	-	1	485	c.435C>T	c.(433-435)ttC>ttT	p.F145F	SLC2A13_ENST00000380858.1_Silent_p.F145F	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	145						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CGCGGCGGCCGAAGACGCCGT	0.731000										HNSCC(50;0.14)			3	10					0	0	1	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394322	39394322	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:39394322C>G	ENST00000254072.6	+	1	26	c.19C>G	c.(19-21)Cct>Gct	p.P7A		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	7						keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGTTGTTCCCCTTGCTGTCA	0.572000													31	50					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6357409	6357409	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:6357409G>A	ENST00000344683.5	+	12	2249	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K	ANGPT2_ENST00000415216.1_3'UTR|ANGPT2_ENST00000325203.5_3'UTR	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	725	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)		CTGGATTTCTGAGGAGCCGTT	0.413000													36	27					0	0	1	0	0
TMEM69	51249	broad.mit.edu	37	1	46159551	46159551	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:46159551G>A	ENST00000372025.4	+	3	1875	c.718G>A	c.(718-720)Gga>Aga	p.G240R		NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	240						integral to membrane				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					TCCAGAAAAAGGACATAAGAG	0.423000													21	36					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45886026	45886026	+	Splice_Site	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:45886026C>T	ENST00000007414.3	-	22	2489	c.2298G>A	c.(2296-2298)agG>agA	p.R766R	OSBPL7_ENST00000392507.3_Splice_Site_p.R766R	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	766					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CCTCCAGGTACCTGAGGATCC	0.582000													12	120					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56481651	56481651	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:56481651C>T	ENST00000370765.6	-	24	6721	c.6614G>A	c.(6613-6615)aGa>aAa	p.R2205K	DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1562					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGCCTAATTCTGAATTCGGG	0.403000													12	62					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86832432	86832432	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:86832432C>T	ENST00000237455.4	-	4	1560	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	RNF103-CHMP3_ENST00000604011.1_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	198					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TGCTCTACTTCAATCTTGCGT	0.388000													120	91					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96880840	96880840	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:96880840G>A	ENST00000394166.3	+	3	2623	c.1234G>A	c.(1234-1236)Gca>Aca	p.A412T	NR2F2_ENST00000453270.2_Missense_Mutation_p.A259T|NR2F2_ENST00000421109.2_Missense_Mutation_p.A279T|NR2F2_ENST00000394171.2_Missense_Mutation_p.A259T	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	412	Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCCGTATATGGCAATTCAATA	0.393000													30	90					0	0	1	0	0
ZNF630	57232	broad.mit.edu	37	X	47919866	47919866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:47919866C>T	ENST00000442455.3	-	4	502	c.159G>A	c.(157-159)tgG>tgA	p.W53*	ZNF630_ENST00000409324.3_Nonsense_Mutation_p.W67*|ZNF630_ENST00000276054.4_5'UTR|ZNF630-AS1_ENST00000436124.1_RNA	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN	zinc finger protein 630	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TCTCTATGATCCATGGGTCCT	0.443000													53	31					0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41753194	41753194	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:41753194C>T	ENST00000359201.5	+	5	1087	c.498C>T	c.(496-498)ctC>ctT	p.L166L	PRICKLE4_ENST00000394260.1_Silent_p.L126L|PRICKLE4_ENST00000458694.1_Silent_p.L166L|PRICKLE4_ENST00000394259.1_Silent_p.L126L|PRICKLE4_ENST00000394263.1_Silent_p.L166L			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	126	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGATAAACCTCATCTACTTCT	0.627000													19	26					0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24129431	24129431	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:24129431C>A	ENST00000344921.6	+	1	282	c.75C>A	c.(73-75)ttC>ttA	p.F25L	SMARCB1_ENST00000407422.3_Missense_Mutation_p.F25L|SMARCB1_ENST00000407082.3_Missense_Mutation_p.F25L|SMARCB1_ENST00000263121.7_Missense_Mutation_p.F25L			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	25					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ACGGCGAGTTCTACATGATCG	0.721000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							30	30					5.91797e-21	6.30528e-21	1	1	0
PIPSL	266971	broad.mit.edu	37	10	95720859	95720859	+	RNA	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:95720859C>T	ENST00000480546.1	-	0	438					NR_002319.2																						CCAAATAGCTCCCAGAAGTAG	0.498000													42	46					0	0	1	0	0
POU2F3	25833	broad.mit.edu	37	11	120175775	120175775	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:120175775G>A	ENST00000260264.4	+	7	521	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	POU2F3_ENST00000543440.2_Missense_Mutation_p.E161K	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	161					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		ATCCTCTTTAGAACCCCACCT	0.527000													18	29					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215781434	215781434	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:215781434C>T	ENST00000259154.4	+	14	1679	c.1385C>T	c.(1384-1386)tCt>tTt	p.S462F		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	462						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CAGCCAGGTTCTACTCCTTTA	0.433000													62	33					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184675243	184675243	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:184675243C>T	ENST00000287546.4	+	36	3288	c.3117C>T	c.(3115-3117)ttC>ttT	p.F1039F	VPS8_ENST00000437079.3_Silent_p.F1039F|VPS8_ENST00000446204.2_Silent_p.F947F|VPS8_ENST00000436792.2_Silent_p.F1037F	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1039							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TGTGTCAGTTCAACCCAACCC	0.378000													3	28					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47591933	47591933	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:47591933G>A	ENST00000359314.5	+	18	2346	c.1890G>A	c.(1888-1890)gaG>gaA	p.E630E		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	630					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TGGAAATAGAGAAGCTGAAAA	0.348000													22	18					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814970	2814970	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:2814970G>A	ENST00000301740.8	+	11	4990	c.4441G>A	c.(4441-4443)Gat>Aat	p.D1481N		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1481	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAGCGAATGTGATTCTTCCCC	0.537000													41	91					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4776883	4776883	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:4776883G>A	ENST00000354582.6	+	43	5694	c.5344G>A	c.(5344-5346)Gag>Aag	p.E1782K	ITPR1_ENST00000423119.2_Missense_Mutation_p.E1749K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.E1782K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E1749K|ITPR1_ENST00000456211.2_Missense_Mutation_p.E1734K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E1782K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1797					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GAGCAGGGGTGAGATGAGTCT	0.478000													45	28					0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207195452	207195452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:207195452C>A	ENST00000359470.5	-	4	1906	c.1657G>T	c.(1657-1659)Gag>Tag	p.E553*	C1orf116_ENST00000461135.2_Nonsense_Mutation_p.E307*	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	553						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GAGCTCTGCTCCTGCTCCAGG	0.612000													24	14					4.4004e-07	4.54831e-07	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140996333	140996333	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:140996333G>T	ENST00000285879.4	+	4	3429	c.3143G>T	c.(3142-3144)tGg>tTg	p.W1048L	MAGEC1_ENST00000406005.2_Missense_Mutation_p.W115L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1048	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ACTAAAGTTTGGGTGCAGGAA	0.542000										HNSCC(15;0.026)			32	101					1.80694e-10	1.88528e-10	1	1	0
PIWIL2	55124	broad.mit.edu	37	8	22212998	22212998	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:22212998G>A	ENST00000356766.6	+	23	3050	c.2902G>A	c.(2902-2904)Gag>Aag	p.E968K	PIWIL2_ENST00000521356.1_Missense_Mutation_p.E932K|PIWIL2_ENST00000454009.2_Missense_Mutation_p.E968K	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	968					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCAGCTGTGCGAGAACCTGTT	0.532000													20	12					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53607868	53607868	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:53607868C>G	ENST00000342160.3	-	42	6096	c.5639G>C	c.(5638-5640)cGc>cCc	p.R1880P	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1880P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1880					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTCTGGATTGCGGCATGCGGC	0.577000													12	23					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42727475	42727475	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:42727475C>T	ENST00000287777.4	+	1	465	c.365C>T	c.(364-366)tCc>tTc	p.S122F		NM_152393.2	NP_689606.2			kelch-like family member 40																		ATCTGCGTGTCCTTCCTGCAG	0.632000													31	79					0	0	1	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37032897	37032897	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:37032897C>T	ENST00000322716.5	-	1	1898	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	558						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						AAAGCCTTTTCACAGATTTGG	0.433000													4	140					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19592888	19592888	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:19592888C>T	ENST00000438132.3	+	7	867	c.819C>T	c.(817-819)taC>taT	p.Y273Y	C16orf62_ENST00000251143.5_Silent_p.Y184Y|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000542263.1_Silent_p.Y273Y|C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000417362.2_Silent_p.Y184Y|C16orf62_ENST00000448695.1_Silent_p.Y62Y	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	184						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AGCAGGATTACGTGAACCGCA	0.502000													12	86					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156750969	156750969	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:156750969A>G	ENST00000347377.6	+	16	2143	c.1712A>G	c.(1711-1713)gAc>gGc	p.D571G	CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.D496G|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D571G|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D596G|CYFIP2_ENST00000521420.1_Missense_Mutation_p.D545G|CYFIP2_ENST00000522463.1_Missense_Mutation_p.D375G|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.D270G	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	596					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCATTGCAGACAAAAGCGGC	0.507000													10	12					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	597101	597101	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:597101C>G	ENST00000219611.2	+	4	626	c.263C>G	c.(262-264)cCc>cGc	p.P88R		NM_005632.2	NP_005623.1			calpain 15																		GGGGTCCTCCCCAAGCCACCC	0.711000													4	11					0	0	1	0	0
SMPD2	6610	broad.mit.edu	37	6	109762653	109762653	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:109762653G>A	ENST00000258052.3	+	2	503	c.144G>A	c.(142-144)gaG>gaA	p.E48E		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	48					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CTTTGCTGGAGGAGGTGAGAT	0.617000													12	46					0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23104381	23104381	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:23104381C>T	ENST00000397677.1	+	2	821	c.173C>T	c.(172-174)cCg>cTg	p.P58L	CHMP7_ENST00000313219.7_Missense_Mutation_p.P58L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	58					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TTCTGGGCGCCGTTGGTGCTG	0.667000											OREG0018633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	0					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121742146	121742146	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:121742146G>A	ENST00000452319.1	+	12	1843	c.1783G>A	c.(1783-1785)Gtc>Atc	p.V595I	GLI2_ENST00000361492.4_Missense_Mutation_p.V595I|GLI2_ENST00000314490.11_Missense_Mutation_p.V267I|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	595					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V595I(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGATGCCCACGTCACCAAGAA	0.607000													51	68					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56822756	56822756	+	Silent	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:56822756G>C	ENST00000229201.4	-	11	1366	c.1212C>G	c.(1210-1212)gtC>gtG	p.V404V	TIMELESS_ENST00000553532.1_Silent_p.V405V|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	405					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGAAGGTACGGACACTGAGGG	0.547000													13	28					0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108097853	108097853	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:108097853C>T	ENST00000374720.3	+	4	526	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SLC44A1_ENST00000374723.1_Silent_p.F93F|SLC44A1_ENST00000374724.1_Silent_p.F93F|SLC44A1_ENST00000607692.1_3'UTR	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	93						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GGTATGTATTCTTTTTGGATC	0.408000													49	52					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2594905	2594905	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:2594905G>A	ENST00000570628.2	-	25	3849	c.3744C>T	c.(3742-3744)ctC>ctT	p.L1248L	CLUH_ENST00000435359.1_Silent_p.L1248L|CLUH_ENST00000538975.1_Silent_p.L1248L					clustered mitochondria (cluA/CLU1) homolog																		GGCCTCACCTGAGAGGAATGA	0.652000													9	12					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19975099	19975099	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:19975099G>T	ENST00000295824.9	-	1	573	c.412C>A	c.(412-414)Cag>Aag	p.Q138K	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	138					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCTGCAGCCTGTGAACTTCCA	0.502000													13	150					4.3838e-07	4.53539e-07	1	1	0
NFATC1	4772	broad.mit.edu	37	18	77246539	77246539	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr18:77246539G>A	ENST00000253506.5	+	9	2753	c.2384G>A	c.(2383-2385)gGa>gAa	p.G795E	NFATC1_ENST00000427363.2_Missense_Mutation_p.G795E|NFATC1_ENST00000545796.1_Missense_Mutation_p.G323E|NFATC1_ENST00000329101.4_Missense_Mutation_p.G782E|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000318065.5_Missense_Mutation_p.G782E|NFATC1_ENST00000397790.2_Missense_Mutation_p.G323E	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	0	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CAGCCGGCCGGAGAGGCCCCC	0.746000													11	15					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17319034	17319034	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:17319034G>C	ENST00000452699.1	-	17	1966	c.1777C>G	c.(1777-1779)Cag>Gag	p.Q593E	ATP13A2_ENST00000341676.5_Missense_Mutation_p.Q593E|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.Q598E	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	598					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCCAAGACCTGGGTCCCAAAT	0.627000													10	100					0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72168590	72168590	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr18:72168590G>A	ENST00000324262.4	+	3	403	c.87G>A	c.(85-87)caG>caA	p.Q29Q	CNDP2_ENST00000324301.8_Silent_p.Q29Q|CNDP2_ENST00000579847.1_Silent_p.Q29Q	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	29						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TGGCTATCCAGAGTGTGTCTG	0.532000													17	31					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71795102	71795102	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:71795102G>A	ENST00000258104.3	+	25	2810	c.2533G>A	c.(2533-2535)Ggc>Agc	p.G845S	DYSF_ENST00000409366.1_Missense_Mutation_p.G846S|DYSF_ENST00000394120.2_Missense_Mutation_p.G846S|DYSF_ENST00000409744.1_Missense_Mutation_p.G832S|DYSF_ENST00000409651.1_Missense_Mutation_p.G877S|DYSF_ENST00000410041.1_Missense_Mutation_p.G863S|DYSF_ENST00000409582.3_Missense_Mutation_p.G862S|DYSF_ENST00000413539.2_Missense_Mutation_p.G876S|DYSF_ENST00000429174.2_Missense_Mutation_p.G845S|DYSF_ENST00000409762.1_Missense_Mutation_p.G862S|DYSF_ENST00000410020.3_Missense_Mutation_p.G863S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	845						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGGTGCCTGGCGCCCGGAT	0.572000													16	87					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77917004	77917004	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:77917004G>A	ENST00000441408.2	+	5	633	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	USP35_ENST00000530267.1_Silent_p.T6T|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.T169T|USP35_ENST00000529308.1_Silent_p.T438T			Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	0					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGTCAGACACGGGCAAGATTG	0.557000													7	247					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110576300	110576300	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:110576300C>T	ENST00000338081.3	-	4	1201	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	DCX_ENST00000356220.3_Missense_Mutation_p.D263N|DCX_ENST00000488120.1_Missense_Mutation_p.D263N|DCX_ENST00000371993.2_Missense_Mutation_p.D263N|DCX_ENST00000356915.2_Missense_Mutation_p.D263N|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	344	Doublecortin 2.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGAGAAAAATCATCCTGAGCA	0.398000													13	19					0	0	1	0	0
SRPR	6734	broad.mit.edu	37	11	126137932	126137932	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:126137932T>C	ENST00000332118.6	-	2	321	c.167A>G	c.(166-168)tAt>tGt	p.Y56C	SRPR_ENST00000530680.1_5'UTR|SRPR_ENST00000532259.1_Intron	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	56					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GTCCAGTTTATACTTGAGTGT	0.463000													4	58					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144881466	144881466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:144881466G>A	ENST00000369359.4	-	28	4179	c.4141C>T	c.(4141-4143)Cag>Tag	p.Q1381*	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q1244*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q1200*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q1244*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q1381*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1244					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCGTTAGCCTGAGCAAAGACA	0.443000			T	PDGFRB	MPD								77	536					0	0	1	0	0
SELPLG	6404	broad.mit.edu	37	12	109017169	109017169	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:109017169G>A	ENST00000388962.3	-	3	1044	c.885C>T	c.(883-885)gtC>gtT	p.V295V	SELPLG_ENST00000228463.6_Silent_p.V321V|SELPLG_ENST00000550948.1_Silent_p.V305V	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	305					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CTGGGTAGTTGACGGACAAAT	0.532000													24	21					0	0	1	0	0
RRAS	6237	broad.mit.edu	37	19	50139022	50139022	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:50139022C>T	ENST00000246792.3	-	5	643	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	181					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		TCAAAAGCCTCGTCCACGTTG	0.637000													26	38					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101567897	101567897	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:101567897C>T	ENST00000284395.5	+	20	2972	c.2572C>T	c.(2572-2574)Cgc>Tgc	p.R858C	LRRK1_ENST00000388948.3_Missense_Mutation_p.R861C			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	861					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAGCAGCGCCGCAGCCGGGA	0.662000													4	5					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	956270	956270	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:956270C>T	ENST00000273814.3	-	18	2240	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTGCCAGCCTCGTGGGCATCC	0.682000													8	18					0	0	1	0	0
CCL14	6358	broad.mit.edu	37	17	34313609	34313609	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:34313609G>C	ENST00000536149.1	-	5	1088	c.77C>G	c.(76-78)tCa>tGa	p.S26*	CTB-186H2.3_ENST00000591669.1_Missense_Mutation_p.E19Q|CCL14_ENST00000435911.2_Nonsense_Mutation_p.S26*|CCL14_ENST00000394509.4_Nonsense_Mutation_p.S26*|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000586216.1_Nonsense_Mutation_p.S26*|CCL14_ENST00000480944.2_5'UTR|CTB-186H2.3_ENST00000593057.1_Intron			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	26					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCACTCACGTGAGGAGGATTC	0.562000													20	24					0	0	1	0	0
SPECC1L	23384	broad.mit.edu	37	22	24761536	24761536	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:24761536C>A	ENST00000314328.9	+	13	3205	c.2920C>A	c.(2920-2922)Cca>Aca	p.P974T	SPECC1L_ENST00000437398.1_Missense_Mutation_p.P974T|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.P974T	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	974					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AACCACGTCTCCACAGCTTTC	0.512000													16	100					2.48551e-13	2.62043e-13	1	1	0
ZP2	7783	broad.mit.edu	37	16	21213342	21213342	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:21213342G>T	ENST00000574002.1	-	13	1772	c.1290C>A	c.(1288-1290)ttC>ttA	p.F430L	ZP2_ENST00000574091.1_Missense_Mutation_p.F430L|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.F430L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	430	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TATCATCTTCGAACTTAAATG	0.403000													6	70					0.00198382	0.00200923	1	1	0
POLA2	23649	broad.mit.edu	37	11	65048486	65048486	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:65048486G>A	ENST00000265465.3	+	8	1299	c.768G>A	c.(766-768)caG>caA	p.Q256Q	POLA2_ENST00000541089.1_Silent_p.Q48Q	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	256					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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TGCTGGGCCAGATTGGCTGTG	0.493000													43	21					0	0	1	0	0
RPL18	6141	broad.mit.edu	37	19	49120576	49120576	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:49120576C>T	ENST00000549273.1	-	3	228	c.195G>A	c.(193-195)cgG>cgA	p.R65R	RPL18_ENST00000549920.1_Silent_p.R65R|RPL18_ENST00000550645.1_Silent_p.R65R|RPL18_ENST00000552588.1_Silent_p.R36R			Q07020	RL18_HUMAN	ribosomal protein L18	65					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			cervix(1)|kidney(2)	3		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.89e-05)|all cancers(93;0.00011)|GBM - Glioblastoma multiforme(486;0.0061)|Epithelial(262;0.0154)		CACTCACCATCCGGGAAAGGG	0.577000													50	74					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472633	47472633	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:47472633G>A	ENST00000266581.4	-	2	619	c.153C>T	c.(151-153)atC>atT	p.I51I	AMIGO2_ENST00000429635.1_Silent_p.I51I|AMIGO2_ENST00000321382.3_Silent_p.I51I|AMIGO2_ENST00000550413.1_Silent_p.I51I	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	51	LRRNT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGCAGCTGACGATGTCAGTGG	0.542000													26	48					0	0	1	0	0
SNORD3B-2	780852	broad.mit.edu	37	17	18967379	18967379	+	RNA	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:18967379C>T	ENST00000364880.1	-	0	70																											tcggggttttcggtgctctac	0.498000													6	55					0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59064257	59064257	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:59064257G>C	ENST00000559228.1	+	1	745	c.663G>C	c.(661-663)gaG>gaC	p.E221D	FAM63B_ENST00000450403.2_Missense_Mutation_p.E221D			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	221										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAAGGAGGAGGAGGGGGAGG	0.617000													8	17					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1231110	1231110	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:1231110C>A	ENST00000590083.1	-	9	1436	c.1144G>T	c.(1144-1146)Gct>Tct	p.A382S	C19orf26_ENST00000215376.6_Missense_Mutation_p.A376S|C19orf26_ENST00000382477.2_Missense_Mutation_p.A402S			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	402						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCGAGAGCAGGGGGCGGG	0.706000										HNSCC(14;0.022)			19	15					1.55795e-14	1.64723e-14	1	1	0
TAPBP	6892	broad.mit.edu	37	6	33281010	33281010	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:33281010G>A	ENST00000434618.2	-	3	798	c.453C>T	c.(451-453)ctC>ctT	p.L151L	TAPBP_ENST00000475304.1_Silent_p.L151L|TAPBP_ENST00000456592.2_Silent_p.L151L|TAPBP_ENST00000426633.2_Silent_p.L151L|TAPBP_ENST00000489157.1_Intron	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	151					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CCATGGTGATGAGAACAGGCT	0.592000													13	38					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77305783	77305783	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:77305783C>T	ENST00000388914.3	-	4	476	c.324G>A	c.(322-324)ttG>ttA	p.L108L	CCDC158_ENST00000434846.2_Silent_p.L108L	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	108										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTGACTGCCTCAAATAAAACT	0.333000													40	41					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129573437	129573437	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:129573437T>C	ENST00000421865.2	+	14	2142	c.2093T>C	c.(2092-2094)tTc>tCc	p.F698S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	698	Laminin IV type A 1.				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)		GATGCCATCTTCAGGTAAAAT	0.453000													22	21					0	0	1	0	0
PSMF1	9491	broad.mit.edu	37	20	1099530	1099530	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:1099530G>A	ENST00000335877.6	+	1	290	c.114G>A	c.(112-114)ttG>ttA	p.L38L	PSMF1_ENST00000246015.4_Silent_p.L38L|PSMF1_ENST00000333082.3_Silent_p.L38L|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000438768.2_Silent_p.L38L	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	38					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						ACTTCGGCTTGGGTGTCGGTG	0.637000													23	34					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	36020043	36020043	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:36020043G>A	ENST00000325722.3	-	2	284	c.50C>T	c.(49-51)tCa>tTa	p.S17L		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	17						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATAATATCCTGATAAAATCCA	0.458000													32	47					0	0	1	0	0
RNF5	6048	broad.mit.edu	37	6	32147490	32147490	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:32147490G>A	ENST00000427134.2	+	3	237	c.222G>A	c.(220-222)gaG>gaA	p.E74E	RNF5_ENST00000487940.1_3'UTR|RNF5_ENST00000375094.3_Silent_p.E74E			Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	74					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						TCAGCAGAGAGAAGGTTGTCC	0.547000													15	31					0	0	1	0	0
PAQR4	124222	broad.mit.edu	37	16	3021375	3021375	+	Silent	SNP	C	C	T	rs141502503	by1000genomes	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:3021375C>T	ENST00000318782.8	+	2	814	c.384C>T	c.(382-384)acC>acT	p.T128T	PAQR4_ENST00000293978.8_Silent_p.T89T|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Intron|PAQR4_ENST00000574988.1_Silent_p.T61T|PAQR4_ENST00000576565.1_Silent_p.T61T	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	128						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						TTGTCAACACCCTTGGTGAGT	0.647000													17	43					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622135	234622135	+	Silent	SNP	G	G	C	rs17868332		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:234622135G>C	ENST00000608381.1	+	1	498	c.498G>C	c.(496-498)tcG>tcC	p.S166S	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Silent_p.S166S|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019078.1	NP_061951.1	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.S166S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AGTACCTGTCGATTCCTGCTG	0.473000													105	46					0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32400210	32400210	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:32400210C>T	ENST00000265069.8	-	9	1717	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	539					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TGCTTTACTTCAGGAATCTGC	0.448000													76	41					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494462	55494462	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:55494462C>T	ENST00000543010.1	+	6	1539	c.1396C>T	c.(1396-1398)Cac>Tac	p.H466Y	NLRP2_ENST00000391721.4_Missense_Mutation_p.H442Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.H444Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.H444Y|NLRP2_ENST00000263437.6_Missense_Mutation_p.H463Y|NLRP2_ENST00000538819.1_Missense_Mutation_p.H442Y|NLRP2_ENST00000427260.2_Missense_Mutation_p.H443Y|NLRP2_ENST00000448584.2_Missense_Mutation_p.H466Y	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	466	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTCCGTGCTTCACCGAGAGGA	0.687000													26	34					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101447707	101447707	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:101447707G>A	ENST00000341893.3	+	4	1125	c.373G>A	c.(373-375)Gct>Act	p.A125T	CEP97_ENST00000494050.1_Missense_Mutation_p.A125T|CEP97_ENST00000327230.4_Missense_Mutation_p.A125T			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	125						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TAGCTGCACAGCTCTACAGCA	0.328000													8	71					0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159092430	159092430	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:159092430C>T	ENST00000296530.8	-	2	719	c.98G>A	c.(97-99)aGg>aAg	p.R33K	FAM198B_ENST00000393807.5_Missense_Mutation_p.R33K|FAM198B_ENST00000585682.1_Missense_Mutation_p.R33K|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Missense_Mutation_p.R33K|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	33						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TCTCCGGGTCCTTGGACGCCG	0.627000													28	34					0	0	1	0	0
LY6G6D	58530	broad.mit.edu	37	6	31685375	31685375	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:31685375C>T	ENST00000503322.1	+	6	946	c.943C>T	c.(943-945)Cac>Tac	p.H315Y	LY6G6D_ENST00000375825.3_Missense_Mutation_p.H66Y|LY6G6F_ENST00000556581.1_Missense_Mutation_p.H315Y																							GACCTTGATTCACCAACATCC	0.552000													112	79					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70468610	70468610	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:70468610C>G	ENST00000373998.1	-	9	2360	c.1663G>C	c.(1663-1665)Gac>Cac	p.D555H	ZMYM3_ENST00000373984.3_Missense_Mutation_p.D557H|ZMYM3_ENST00000353904.2_Missense_Mutation_p.D555H|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.D555H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.D557H	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	555					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TAACAGGGGTCAGAGAGGCTG	0.577000													6	4					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20024192	20024192	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:20024192C>T	ENST00000377340.2	-	8	1430	c.1399G>A	c.(1399-1401)Ggt>Agt	p.G467S	CRNKL1_ENST00000536226.1_Missense_Mutation_p.G306S|CRNKL1_ENST00000377327.4_Missense_Mutation_p.G455S	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	467					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCTTCAATACCCCGCCTATCA	0.408000													39	81					0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42689614	42689614	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:42689614C>A	ENST00000230381.5	-	1	698	c.459G>T	c.(457-459)aaG>aaT	p.K153N		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	153			K -> R (in RP7).|Missing (in RP7).		cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CGATGGTCTTCTTCATGAAAC	0.542000													19	44					6.49762e-13	6.83732e-13	1	1	0
RGMA	56963	broad.mit.edu	37	15	93588422	93588422	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:93588422C>T	ENST00000329082.7	-	4	1430	c.1159G>A	c.(1159-1161)Gac>Aac	p.D387N	RGMA_ENST00000557301.1_Missense_Mutation_p.D395N|RGMA_ENST00000425933.2_Missense_Mutation_p.D371N|RGMA_ENST00000543599.1_Missense_Mutation_p.D371N|RGMA_ENST00000538818.1_Missense_Mutation_p.D278N|RGMA_ENST00000556658.1_Missense_Mutation_p.D278N|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000542321.2_Missense_Mutation_p.D371N	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	387					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AAGTTCACGTCGCCCGTGGTG	0.577000													3	13					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118147611	118147611	+	Silent	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:118147611C>G	ENST00000456015.2	+	1	45	c.45C>G	c.(43-45)gcC>gcG	p.A15A	SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000521243.1_Intron|SLC30A8_ENST00000521035.1_3'UTR|SLC30A8_ENST00000427715.2_5'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	15					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATAAAGCTGCCAAGATGTATG	0.423000													26	265					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851867	43851867	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:43851867G>A	ENST00000372769.3	+	2	1684	c.1594G>A	c.(1594-1596)Gat>Aat	p.D532N		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	532	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TCAATCTGCAGATAGCAAACA	0.403000													37	41					0	0	1	0	0
CWC22	57703	broad.mit.edu	37	2	180810250	180810250	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:180810250C>T	ENST00000410053.3	-	20	2632	c.2333G>A	c.(2332-2334)aGa>aAa	p.R778K	CWC22_ENST00000295749.6_Missense_Mutation_p.R778K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	778						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TATAGGATCTCTCCAATTTGA	0.383000													54	27					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324815	150324815	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:150324815C>T	ENST00000328902.5	-	3	1087	c.871G>A	c.(871-873)Gac>Aac	p.D291N	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	291							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCAAAGGTCAGCCTTCCCC	0.577000													29	53					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61473533	61473533	+	Silent	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:61473533T>A	ENST00000398571.2	-	50	6550	c.6474A>T	c.(6472-6474)ggA>ggT	p.G2158G		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2158					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATCTGCCGTTCCTGTGTGAA	0.333000													46	33					0	0	1	0	0
ACOT9	23597	broad.mit.edu	37	X	23740102	23740102	+	Splice_Site	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:23740102C>A	ENST00000379303.5	-	8	613		c.e8-1		ACOT9_ENST00000336430.7_Splice_Site|ACOT9_ENST00000379295.1_Splice_Site|ACOT9_ENST00000492081.1_Splice_Site	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9						acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						TTACACATATCTGCAAAACAG	0.383000													7	80					1.6384e-10	1.71105e-10	1	1	0
THBD	7056	broad.mit.edu	37	20	23029937	23029937	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:23029937C>T	ENST00000377103.2	-	1	441	c.205G>A	c.(205-207)Gat>Aat	p.D69N		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	69	C-type lectin.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GAAATGACATCGGCAGCCACC	0.687000													7	3					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114919691	114919691	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:114919691C>G	ENST00000355995.4	+	14	1889	c.1382C>G	c.(1381-1383)cCt>cGt	p.P461R	TCF7L2_ENST00000352065.5_Missense_Mutation_p.P438R|TCF7L2_ENST00000545257.1_Intron|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P461R|TCF7L2_ENST00000542695.1_Missense_Mutation_p.P177R|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P444R|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P438R|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000369386.1_Missense_Mutation_p.P87R|TCF7L2_ENST00000538897.1_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	461	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTGAGCGCTCCTAAGAAATGC	0.552000			T	VTI1A	colorectal								19	38					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102503655	102503655	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:102503655G>A	ENST00000413150.2	+	26	3092	c.3037G>A	c.(3037-3039)Gat>Aat	p.D1013N	MAP4K4_ENST00000350878.4_Missense_Mutation_p.D1138N|MAP4K4_ENST00000456652.1_Missense_Mutation_p.D897N|MAP4K4_ENST00000302217.5_Missense_Mutation_p.D901N|MAP4K4_ENST00000347699.4_Missense_Mutation_p.D1098N|MAP4K4_ENST00000425019.1_Missense_Mutation_p.D1131N|MAP4K4_ENST00000324219.4_Missense_Mutation_p.D1179N|MAP4K4_ENST00000350198.4_Missense_Mutation_p.D1017N	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1098	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCATGCTGTTGATGTGGATTC	0.423000													17	20					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176556088	176556088	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:176556088G>A	ENST00000280187.7	-	8	850	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	GPM6A_ENST00000393658.2_Missense_Mutation_p.R269C|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000515090.1_Missense_Mutation_p.R262C|GPM6A_ENST00000506894.1_Missense_Mutation_p.R258C	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	269						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCTTTGGAGCGAGTAGAGTGG	0.468000													38	39					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31579258	31579258	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:31579258A>G	ENST00000389082.5	-	9	2471	c.2207T>C	c.(2206-2208)gTa>gCa	p.V736A	DENND5B_ENST00000306833.6_Missense_Mutation_p.V771A|DENND5B_ENST00000536562.1_Missense_Mutation_p.V771A	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	736						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TAAGCCTTCTACGAATTTACA	0.398000													10	15					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128608933	128608933	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:128608933C>G	ENST00000335251.6	+	8	1463	c.1360C>G	c.(1360-1362)Ccc>Gcc	p.P454A		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CAGCGCCAGTCCCAGTGCTCA	0.473000													7	107					0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75896498	75896498	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:75896498A>C	ENST00000355264.4	-	3	648	c.337T>G	c.(337-339)Tta>Gta	p.L113V	AP3M1_ENST00000372745.1_Missense_Mutation_p.L113V	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	113					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					ATTTCTTCTAAGAGTTCATAT	0.368000													18	36					0	0	1	0	0
THAP2	83591	broad.mit.edu	37	12	72068072	72068072	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:72068072C>G	ENST00000308086.2	+	2	1662	c.161C>G	c.(160-162)tCa>tGa	p.S54*	RP11-293I14.2_ENST00000548802.1_Nonsense_Mutation_p.S30*	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	54						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						TTTCTTTGTTCAAAGCACTTT	0.373000													5	122					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73789718	73789718	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:73789718G>A	ENST00000334126.7	-	23	4271	c.4045C>T	c.(4045-4047)Cta>Tta	p.L1349L	C2CD3_ENST00000313663.7_Silent_p.L1349L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1349						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCATGAGGTAGGCCCCCGTCT	0.453000													20	45					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50346942	50346942	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:50346942G>A	ENST00000394697.2	+	22	3086	c.2746G>A	c.(2746-2748)Gac>Aac	p.D916N	ADCY7_ENST00000254235.3_Missense_Mutation_p.D916N			P51828	ADCY7_HUMAN	adenylate cyclase 7	916	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGCCGACTTCGACGAGGTACA	0.557000													18	17					0	0	1	0	0
ALDOC	230	broad.mit.edu	37	17	26902293	26902293	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:26902293G>A	ENST00000226253.4	-	3	647	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	ALDOC_ENST00000395321.2_Silent_p.L58L|ALDOC_ENST00000395319.3_Silent_p.L58L	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	58					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	p.L58L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TGGCGGTACAGCCGGCGGTTC	0.537000											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	44					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844335	128844335	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:128844335C>G	ENST00000310343.9	-	20	2714	c.2715G>C	c.(2713-2715)atG>atC	p.M905I	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.M556I|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M831I|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.M556I	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	905					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAGATATGCTCATAGAAGGTG	0.428000													5	71					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72166660	72166660	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:72166660C>T	ENST00000537465.1	-	10	1592	c.1434G>A	c.(1432-1434)caG>caA	p.Q478Q	PMFBP1_ENST00000355636.6_Silent_p.Q333Q|PMFBP1_ENST00000237353.10_Silent_p.Q478Q			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	478										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCAGCCTCTCCTGCTGCTTGG	0.612000													40	34					0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76580328	76580328	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:76580328C>T	ENST00000359707.4	-	7	1433	c.648G>A	c.(646-648)aaG>aaA	p.K216K	G3BP2_ENST00000395719.3_Silent_p.K216K|G3BP2_ENST00000357854.3_Silent_p.K216K	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	216	Glu-rich.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTTCTAAGTTCTTCTCCTCCA	0.448000													27	63					0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67202103	67202103	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:67202103C>T	ENST00000312629.5	+	14	1251	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	402					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGAGGGCTTCTCCTTCCAGC	0.662000													7	9					0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108564284	108564284	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:108564284G>A	ENST00000526794.1	+	9	1212	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	DDX10_ENST00000322536.3_Missense_Mutation_p.E394K			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	394	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGATTGTCCTGAGGATGCCAA	0.423000			T	NUP98	AML*								30	93					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46790080	46790080	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:46790080C>T	ENST00000262738.3	-	14	5922	c.5923G>A	c.(5923-5925)Gat>Aat	p.D1975N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1975	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGTCGGGATCAAAGCCTTTG	0.597000													30	13					0	0	1	0	0
GPD2	2820	broad.mit.edu	37	2	157407125	157407125	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:157407125G>C	ENST00000310454.6	+	8	1210	c.838G>C	c.(838-840)Gac>Cac	p.D280H	GPD2_ENST00000409125.4_Missense_Mutation_p.D53H|GPD2_ENST00000409674.1_Missense_Mutation_p.D280H|GPD2_ENST00000540309.1_Missense_Mutation_p.D280H|GPD2_ENST00000438166.2_Missense_Mutation_p.D280H	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	280					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GCAGGAATTTGACGTGAGAGC	0.443000													20	49					0	0	1	0	0
SSB	6741	broad.mit.edu	37	2	170665377	170665377	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:170665377G>A	ENST00000409333.1	+	8	881	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	SSB_ENST00000260956.4_Missense_Mutation_p.E212K			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	212					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TAGGGAGCAAGAAGCAAAACA	0.259000													11	31					0	0	1	0	0
TRNT1	51095	broad.mit.edu	37	3	3170697	3170697	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:3170697G>A	ENST00000251607.6	+	2	75		c.e2-1		TRNT1_ENST00000420393.1_Splice_Site|TRNT1_ENST00000280591.6_Splice_Site|TRNT1_ENST00000339437.6_Splice_Site|TRNT1_ENST00000402675.1_Splice_Site|TRNT1_ENST00000469632.1_Splice_Site	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1						protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		TTGCCTTGTAGATGTGTAGTT	0.458000													9	154					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978813	107978813	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:107978813G>A	ENST00000372129.2	-	1	838	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	254	IRS-type PTB.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GACACAGCCGGAACACGCCGC	0.612000													11	44					0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56557375	56557375	+	Silent	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:56557375T>G	ENST00000323777.3	-	2	913	c.804A>C	c.(802-804)acA>acC	p.T268T		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGCTGCAGTGTATAGGTAA	0.468000													116	41					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75230421	75230421	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:75230421C>T	ENST00000325680.7	+	1	353	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q77*|YLPM1_ENST00000552421.1_Nonsense_Mutation_p.Q77*	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	77	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTGCGTGCTTCAGCCCCACCA	0.701000													9	24					0	0	1	0	0
COQ5	84274	broad.mit.edu	37	12	120954476	120954476	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:120954476C>T	ENST00000288532.6	-	3	508	c.468G>A	c.(466-468)caG>caA	p.Q156Q	COQ5_ENST00000445328.2_Intron	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	156					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTCTTCATTCTGGTACTCTT	0.453000													7	277					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7636550	7636550	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:7636550A>T	ENST00000572933.1	+	5	2005	c.545A>T	c.(544-546)cAg>cTg	p.Q182L	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q182L|DNAH2_ENST00000570791.1_Missense_Mutation_p.Q182L|DNAH2_ENST00000082259.3_Missense_Mutation_p.Q182L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	182	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTTGCCCCTCAGATCTTTGCA	0.557000													40	67					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39717306	39717306	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:39717306A>G	ENST00000553728.1	+	4	1741	c.1528A>G	c.(1528-1530)Aca>Gca	p.T510A	MIA2_ENST00000556784.1_Missense_Mutation_p.T509A|MIA2_ENST00000280082.3_Missense_Mutation_p.T510A																							CACAGATAATACAAAAGTTAT	0.244000													20	63					0	0	1	0	0
LPCAT3	10162	broad.mit.edu	37	12	7091840	7091840	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:7091840C>A	ENST00000261407.4	-	3	448	c.363G>T	c.(361-363)caG>caT	p.Q121H		NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	121					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						CGTTTACCATCTGGAAGCAAA	0.527000													5	17					0.000602214	0.000611046	1	1	0
INTS4	92105	broad.mit.edu	37	11	77602450	77602450	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:77602450C>T	ENST00000534064.1	-	21	2541	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	INTS4_ENST00000535943.1_Missense_Mutation_p.R211Q|AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000527134.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	836					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGAGGTAAACCGCAAAGGGTT	0.522000													11	12					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31621487	31621487	+	Missense_Mutation	SNP	G	G	A	rs145064943	by1000genomes	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:31621487G>A	ENST00000379416.3	-	5	433	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	129					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGCTGATTCCGGAGCAGTGTG	0.552000													94	76					0	0	1	0	0
RP2	6102	broad.mit.edu	37	X	46712997	46712997	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:46712997C>T	ENST00000218340.3	+	2	350	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	63	C-CAP/cofactor C-like.				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						AACAGTTTCTCATTCAAGACT	0.418000													52	50					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510444	84510444	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:84510444G>T	ENST00000360700.4	+	4	1145	c.259G>T	c.(259-261)Gtg>Ttg	p.V87L	ZNF711_ENST00000395402.1_Missense_Mutation_p.V65L|ZNF711_ENST00000373165.3_Missense_Mutation_p.V87L|ZNF711_ENST00000276123.3_Missense_Mutation_p.V87L			Q9Y462	ZN711_HUMAN	zinc finger protein 711	87					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AACAGAAGGTGTGATTGTTCC	0.423000													22	119					5.26018e-13	5.54045e-13	1	1	0
ALDH1L2	160428	broad.mit.edu	37	12	105456749	105456749	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:105456749C>T	ENST00000258494.9	-	7	978	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.E280K	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	280					10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TCCAGTGGTTCTCCAGGAGGC	0.408000													44	31					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99148282	99148282	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:99148282C>T	ENST00000370992.4	-	7	964	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	RRP12_ENST00000536831.1_Intron|RRP12_ENST00000315563.6_Missense_Mutation_p.A185T|RRP12_ENST00000414986.1_Missense_Mutation_p.A224T	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	285						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CAGAACTTGGCAGTGGAAATG	0.572000													3	36					0	0	1	0	0
CPSF2	53981	broad.mit.edu	37	14	92625453	92625453	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:92625453G>A	ENST00000298875.4	+	14	2233	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	650					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TATTTTAGAAGAAGGAGAACT	0.408000													22	53					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33945147	33945147	+	Silent	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:33945147C>G	ENST00000361328.3	+	2	411	c.258C>G	c.(256-258)ctC>ctG	p.L86L	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Silent_p.L86L	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	86	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGATCCGTCTCAAAGAGCAGA	0.607000													8	33					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272447	158272447	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:158272447G>A	ENST00000264192.3	-	8	943	c.822C>T	c.(820-822)ttC>ttT	p.F274F	CYTIP_ENST00000540637.1_Silent_p.F168F	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	274	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCTGCCGACTGAAGGCACCCC	0.537000													35	26					0	0	1	0	0
ORMDL2	29095	broad.mit.edu	37	12	56213257	56213257	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:56213257C>T	ENST00000243045.5	+	3	501	c.306C>T	c.(304-306)ctC>ctT	p.L102L	ORMDL2_ENST00000550836.1_Silent_p.L14L|RP11-762I7.5_ENST00000546837.1_Intron|ORMDL2_ENST00000552672.1_Silent_p.L68L|RP11-762I7.5_ENST00000552719.1_Intron|ORMDL2_ENST00000548974.1_Silent_p.L102L	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORM1-like 2 (S. cerevisiae)	102					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				kidney(1)|lung(3)	4						GCAAGTTCCTCAGCATCTCTC	0.517000													53	71					0	0	1	0	0
HOXA7	3204	broad.mit.edu	37	7	27194620	27194620	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:27194620C>T	ENST00000242159.3	-	2	734	c.601G>A	c.(601-603)Gag>Aag	p.E201K	HOXA-AS3_ENST00000518947.2_RNA|HOXA7_ENST00000523796.2_5'UTR	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	201					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						ACGGCGCCCTCGGGAGCTGCG	0.632000													23	112					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135287508	135287508	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:135287508G>A	ENST00000367837.5	-	17	2208	c.2002C>T	c.(2002-2004)Cgt>Tgt	p.R668C	HBS1L_ENST00000367826.2_Missense_Mutation_p.R626C|HBS1L_ENST00000445176.2_Missense_Mutation_p.R392C|HBS1L_ENST00000527578.1_Missense_Mutation_p.R504C|HBS1L_ENST00000415177.2_Missense_Mutation_p.R603C|HBS1L_ENST00000367824.4_Missense_Mutation_p.R504C	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	668					signal transduction		GTP binding|GTPase activity|translation elongation factor activity	p.R668C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CCACCGTAACGTAGCATGAAC	0.373000													29	96					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542853	61542853	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:61542853C>T	ENST00000266070.4	-	3	437	c.112G>A	c.(112-114)Gag>Aag	p.E38K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E38K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E38K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E38K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E38K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E38K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E38K|DIDO1_ENST00000266071.5_Missense_Mutation_p.E38K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E38K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	38					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCTGCGCCCTCTCGCTTGGCG	0.647000													5	17					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57470679	57470679	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:57470679C>T	ENST00000371100.4	+	2	2633	c.2081C>T	c.(2080-2082)tCt>tTt	p.S694F	GNAS_ENST00000371095.3_Missense_Mutation_p.S51F|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.S51F|GNAS_ENST00000265620.7_Missense_Mutation_p.S51F|GNAS_ENST00000371085.3_Missense_Mutation_p.S51F|GNAS_ENST00000371102.4_Missense_Mutation_p.S694F|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.S51F|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_3'UTR|GNAS_ENST00000371081.1_Missense_Mutation_p.S51F	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	51					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTGGAGAATCTGGTAAAAGC	0.438000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			18	32					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21386081	21386081	+	Silent	SNP	G	G	A	rs144008027		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:21386081G>A	ENST00000382932.2	-	2	88	c.21C>T	c.(19-21)acC>acT	p.T7T	SLC7A4_ENST00000403586.1_Silent_p.T7T|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	7					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGCTAGCAATGGTGGGCAGCC	0.657000													14	31					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184299147	184299147	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:184299147G>C	ENST00000330394.2	+	15	3291	c.2839G>C	c.(2839-2841)Gtc>Ctc	p.V947L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	947	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V947F(1)		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)			GGAGAGCTTCGTCAGTGCGGG	0.592000													3	49					0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148206979	148206979	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:148206979G>A	ENST00000305988.4	+	1	824	c.585G>A	c.(583-585)acG>acA	p.T195T		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	195	Agonist and antagonist binding.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ACTTCTTCACGAACCAAGCCT	0.542000													36	107					0	0	1	0	0
CTDSP2	10106	broad.mit.edu	37	12	58217463	58217463	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:58217463C>T	ENST00000398073.2	-	8	1041	c.738G>A	c.(736-738)ctG>ctA	p.L246L	CTDSP2_ENST00000547701.1_Silent_p.L94L|CTDSP2_ENST00000548823.1_Silent_p.L73L	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	246	FCP1 homology.				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GGATCAGGTTCAGCAACTCAG	0.602000													9	17					0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7044914	7044914	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:7044914C>G	ENST00000356654.4	+	5	721	c.484C>G	c.(484-486)Cct>Gct	p.P162A	ATN1_ENST00000396684.2_Missense_Mutation_p.P162A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	162					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTACCACCCACCTCCACTCTT	0.597000													37	41					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748785	126748785	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:126748785C>T	ENST00000251772.4	+	27	4939	c.4870C>T	c.(4870-4872)Ctg>Ttg	p.L1624L	PLXNA1_ENST00000393409.2_Silent_p.L1647L			Q9UIW2	PLXA1_HUMAN	plexin A1	1647					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACGCCCGACCTGGAGAGCGG	0.667000													27	34					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124335920	124335920	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:124335920G>T	ENST00000338354.3	+	7	395	c.289G>T	c.(289-291)Gat>Tat	p.D97Y	DMBT1_ENST00000330163.4_Missense_Mutation_p.D97Y|DMBT1_ENST00000368955.3_Missense_Mutation_p.D97Y|DMBT1_ENST00000368956.2_Missense_Mutation_p.D97Y|DMBT1_ENST00000344338.3_Missense_Mutation_p.D97Y|DMBT1_ENST00000368909.3_Missense_Mutation_p.D97Y|DMBT1_ENST00000359586.6_Missense_Mutation_p.D97Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	97					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTAGGATCTGATTCTGGTTT	0.557000													20	100					2.4624e-09	2.56191e-09	1	1	0
DNAJC6	9829	broad.mit.edu	37	1	65849923	65849923	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:65849923C>T	ENST00000395325.3	+	6	700	c.543C>T	c.(541-543)ttC>ttT	p.F181F	DNAJC6_ENST00000263441.7_Silent_p.F168F|DNAJC6_ENST00000371069.4_Silent_p.F238F|DNAJC6_ENST00000498720.1_3'UTR	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	181	Phosphatase tensin-type.				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						TGTTCATTTTCTGTAATCTCT	0.423000													25	47					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55651015	55651015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:55651015C>T	ENST00000339140.3	+	1	1183	c.871C>T	c.(871-873)Caa>Taa	p.Q291*		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	291					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCCTTTGCTCAAAGGGAGAG	0.493000													26	24					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112112273	112112273	+	Splice_Site	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:112112273G>C	ENST00000403825.3	+	10	1302		c.e10-1		IFRD1_ENST00000535603.1_Splice_Site|IFRD1_ENST00000005558.4_Splice_Site	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1						multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCATTGGTTAGGAACGGGATT	0.373000													11	141					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25254248	25254248	+	Missense_Mutation	SNP	T	T	C	rs149059849		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:25254248T>C	ENST00000354454.3	+	15	1707	c.878T>C	c.(877-879)cTt>cCt	p.L293P	LRMP_ENST00000548766.1_Missense_Mutation_p.L293P|LRMP_ENST00000547044.1_Missense_Mutation_p.L293P	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	349					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TTCAATCCTCTTGAAGATGAT	0.328000													17	17					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99880245	99880245	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:99880245G>A	ENST00000331768.5	-	7	861	c.702C>T	c.(700-702)ccC>ccT	p.P234P	SETD3_ENST00000436070.2_Silent_p.P234P|SETD3_ENST00000329331.3_Silent_p.P234P	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	234	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AATCCTTCAAGGGTAGTTTGT	0.443000													19	22					0	0	1	0	0
HSPA9	3313	broad.mit.edu	37	5	137895693	137895693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:137895693G>A	ENST00000297185.3	-	11	1395	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	424					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACACCTCCCTGAATGGCAGCT	0.517000													17	12					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22848929	22848929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:22848929C>T	ENST00000283645.4	+	10	1106	c.976C>T	c.(976-978)Cga>Tga	p.R326*	TUBGCP5_ENST00000453949.2_Nonsense_Mutation_p.R326*|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	326					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GGTTGTGTTTCGACTCCAGGA	0.453000													47	45					0	0	1	0	0
SRF	6722	broad.mit.edu	37	6	43141802	43141802	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:43141802C>G	ENST00000265354.4	+	2	1089	c.731C>G	c.(730-732)aCa>aGa	p.T244R	SRF_ENST00000457278.2_Missense_Mutation_p.T40R	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	244	Asp/Glu-rich (acidic).				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TTTGAAGAGACAGATCTCACC	0.572000													9	24					0	0	1	0	0
CD3D	915	broad.mit.edu	37	11	118213299	118213299	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:118213299A>G	ENST00000300692.4	-	1	160	c.24T>C	c.(22-24)tcT>tcC	p.S8S	CD3D_ENST00000529594.1_Silent_p.S8S|CD3D_ENST00000392884.2_Silent_p.S8S	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	8					positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTACCAGGCCAGAGAGAAACG	0.572000													12	18					0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045080	40045080	+	RNA	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:40045080G>A	ENST00000381811.2	-	0	1069					NR_027277.1																						AGGCTGTGACGAGGTTGGTCT	0.542000													7	5					0	0	1	0	0
TFPT	29844	broad.mit.edu	37	19	54617950	54617950	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:54617950G>A	ENST00000391759.1	-	2	559	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L	TFPT_ENST00000391757.1_Silent_p.L52L|TFPT_ENST00000391758.1_Silent_p.L43L	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	52					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					GAGCCGCCCAGACCACCTGAC	0.637000			T	TCF3	pre-B ALL								75	114					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102606463	102606463	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:102606463A>G	ENST00000322340.5	+	1	252	c.203A>G	c.(202-204)aAt>aGt	p.N68S	WDR20_ENST00000342702.3_Missense_Mutation_p.N68S|WDR20_ENST00000299135.6_Missense_Mutation_p.N68S|WDR20_ENST00000558567.1_Missense_Mutation_p.N68S|WDR20_ENST00000556511.2_Missense_Mutation_p.N68S|WDR20_ENST00000556807.1_Missense_Mutation_p.N68S|WDR20_ENST00000557186.1_3'UTR|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Missense_Mutation_p.N68S|WDR20_ENST00000335263.5_Missense_Mutation_p.N68S|WDR20_ENST00000424963.2_Start_Codon_SNP_p.M1V	NM_001242415.1	NP_001229344.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	68										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CTCTGCTTCAATGTGGGCCGG	0.642000													25	16					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466217	164466217	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:164466217G>A	ENST00000333129.3	-	3	2439	c.2125C>T	c.(2125-2127)Cca>Tca	p.P709S	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	709						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCTGTGGCTGGCATGGCATGG	0.512000													4	244					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98506427	98506427	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:98506427G>A	ENST00000359863.4	+	14	1401	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	TRRAP_ENST00000355540.3_Missense_Mutation_p.A398T|TRRAP_ENST00000446306.3_Missense_Mutation_p.A398T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	398					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)			CCTCTCCCTCGCCGTCCAGCT	0.647000													9	7					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162463813	162463813	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:162463813G>A	ENST00000306100.5	-	9	1484	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q349*|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q349*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q349*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	350	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTCTAGCCTGACTCTCTGGA	0.418000													44	37					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110655151	110655151	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:110655151C>G	ENST00000399066.3	-	1	753	c.26G>C	c.(25-27)aGa>aCa	p.R9T	SYBU_ENST00000532779.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000422135.1_Missense_Mutation_p.R12T|SYBU_ENST00000440310.1_Missense_Mutation_p.R12T|SYBU_ENST00000446070.2_Missense_Mutation_p.R11T|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000276646.9_Missense_Mutation_p.R12T|SYBU_ENST00000433638.1_Missense_Mutation_p.R12T|SYBU_ENST00000419099.1_Missense_Mutation_p.R11T|SYBU_ENST00000533895.1_Missense_Mutation_p.R11T|SYBU_ENST00000533171.1_Missense_Mutation_p.R12T|SYBU_ENST00000408908.2_Missense_Mutation_p.R12T|SYBU_ENST00000528647.1_Missense_Mutation_p.R11T|SYBU_ENST00000424158.2_Missense_Mutation_p.R17T|SYBU_ENST00000533065.1_Intron	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	12	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ATGCTGCACTCTGTGCTCCTT	0.463000													47	82					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14143259	14143259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:14143259G>A	ENST00000263379.2	+	2	287	c.162G>A	c.(160-162)tgG>tgA	p.W54*		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	54					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						ACTGCTCGTGGGAGCCTCTTG	0.622000													41	58					0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114404908	114404908	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:114404908G>A	ENST00000317135.8	-	6	982	c.952C>T	c.(952-954)Ctt>Ttt	p.L318F	LRCH2_ENST00000538422.1_Missense_Mutation_p.L318F	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	318										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						AATGATGGAAGATCCAGGGAA	0.353000													4	6					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37209899	37209899	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:37209899A>G	ENST00000585696.1	+	3	1410	c.180A>G	c.(178-180)caA>caG	p.Q60Q	ZNF567_ENST00000536254.2_Silent_p.Q91Q|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Silent_p.Q60Q|ZNF567_ENST00000392163.2_Silent_p.Q60Q|ZNF567_ENST00000588311.1_Silent_p.Q60Q			Q8N184	ZN567_HUMAN	zinc finger protein 567	91	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGGAACACCAAGAGAAGTATT	0.323000													25	40					0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24523302	24523302	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:24523302G>A	ENST00000342740.5	+	3	295	c.141G>A	c.(139-141)ctG>ctA	p.L47L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	47										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTAGGCCCTGACCTCCTGGC	0.612000													26	7					0	0	1	0	0
MKNK2	2872	broad.mit.edu	37	19	2043520	2043520	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:2043520T>A	ENST00000250896.3	-	6	645	c.401A>T	c.(400-402)tAc>tTc	p.Y134F	MKNK2_ENST00000591601.1_Missense_Mutation_p.Y134F|MKNK2_ENST00000541165.1_Missense_Mutation_p.Y3F|MKNK2_ENST00000309340.7_Missense_Mutation_p.Y134F	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	134	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCACTGGTACAGCATCTC	0.592000													11	14					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70476352	70476352	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:70476352G>A	ENST00000260128.4	+	5	859	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	SULF1_ENST00000402687.4_Missense_Mutation_p.V48M|SULF1_ENST00000419716.3_Missense_Mutation_p.V48M|SULF1_ENST00000458141.2_Missense_Mutation_p.V48M	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	48					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CATTATTCTTGTGCTTACCGA	0.468000													22	74					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202724491	202724491	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:202724491C>T	ENST00000367265.3	-	11	2610	c.1446G>A	c.(1444-1446)atG>atA	p.M482I	KDM5B_ENST00000367264.2_Missense_Mutation_p.M518I|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	482	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AAGGAAGTTTCATGCCACATA	0.408000													104	39					0	0	1	0	0
OSTM1	28962	broad.mit.edu	37	6	108395523	108395523	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:108395523G>A	ENST00000193322.3	-	1	418	c.333C>T	c.(331-333)ctC>ctT	p.L111L		NM_014028.3	NP_054747.2	Q86WC4	OSTM1_HUMAN	osteopetrosis associated transmembrane protein 1	111						integral to membrane				central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581)		AGGTCTGACAGAGGCGCACGG	0.662000													7	15					0	0	1	0	0
RAB33B	83452	broad.mit.edu	37	4	140394010	140394010	+	Silent	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:140394010T>C	ENST00000305626.5	+	2	809	c.420T>C	c.(418-420)gaT>gaC	p.D140D		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	140					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					TAGCCAATGATATACCACGGA	0.403000													30	105					0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109197402	109197402	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:109197402G>A	ENST00000370032.5	-	5	754	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	HENMT1_ENST00000402983.1_Missense_Mutation_p.H112Y|HENMT1_ENST00000370031.1_Missense_Mutation_p.H112Y|HENMT1_ENST00000493676.1_5'UTR	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	112					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						ACGGAGCCATGATACAATGTG	0.383000													26	40					0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608626	177608626	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:177608626T>G	ENST00000280193.2	-	6	1275	c.860A>C	c.(859-861)gAt>gCt	p.D287A	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	287	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGTCTCTTCATCCAGCTCCTT	0.483000													4	71					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7002279	7002279	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr18:7002279G>A	ENST00000389658.3	-	30	4459	c.4366C>T	c.(4366-4368)Cac>Tac	p.H1456Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1456	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGGGCTGTGAGGACAGGCA	0.582000													16	57					0	0	1	0	0
TM4SF1	4071	broad.mit.edu	37	3	149089459	149089459	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:149089459C>T	ENST00000472441.1	-	2	465	c.342G>A	c.(340-342)atG>atA	p.M114I	TM4SF1_ENST00000305366.3_Intron			P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	89						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ACGACATTTTCATGCAGGTTC	0.393000													20	82					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9853789	9853789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:9853789G>A	ENST00000256190.8	-	27	3771	c.3634C>T	c.(3634-3636)Cag>Tag	p.Q1212*		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1212	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGGGAGTTCTGAGATTTGAAA	0.463000													8	23					0	0	1	0	0
MOB3A	126308	broad.mit.edu	37	19	2076859	2076859	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:2076859T>C	ENST00000357066.3	-	4	954	c.575A>G	c.(574-576)tAt>tGt	p.Y192C	MOB3A_ENST00000592280.1_Missense_Mutation_p.Y192C|MOB3A_ENST00000592143.1_Intron	NM_130807.2	NP_570719.1	Q96BX8	MOL2A_HUMAN	MOB kinase activator 3A	192						intracellular	metal ion binding										CTTGACGAAATAGTAGAAGTG	0.622000													8	41					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80042457	80042457	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:80042457T>C	ENST00000306749.2	-	27	4918	c.4700A>G	c.(4699-4701)tAc>tGc	p.Y1567C		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1567					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGAGGCGTAGTAGACCGTGCA	0.672000													3	17					0	0	1	0	0
HES1	3280	broad.mit.edu	37	3	193855810	193855810	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:193855810G>A	ENST00000232424.3	+	4	867	c.631G>A	c.(631-633)Gag>Aag	p.E211K		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	211	Pro-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)		CCAGGCTGGAGAGGCGGCTAA	0.731000													6	4					0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363194	84363194	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:84363194T>C	ENST00000509231.1	-	1	860	c.781A>G	c.(781-783)Ata>Gta	p.I261V	SATL1_ENST00000395409.3_Missense_Mutation_p.I74V|SATL1_ENST00000332921.5_Missense_Mutation_p.I74V			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	74	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GGCTGGATTATACCTGTTTGG	0.428000													37	104					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173921267	173921267	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:173921267C>T	ENST00000367696.2	-	14	2731	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	RC3H1_ENST00000258349.4_Missense_Mutation_p.E794K|RC3H1_ENST00000367694.2_Missense_Mutation_p.E794K			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	794					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TTCAAGTCTTCATCCAAAAAC	0.373000													8	43					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618643	52618643	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:52618643G>A	ENST00000600228.1	-	4	2035	c.1774C>T	c.(1774-1776)Ctt>Ttt	p.L592F	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGCCCTACAAGATGTGAATAC	0.428000													34	47					0	0	1	0	0
MNAT1	4331	broad.mit.edu	37	14	61262967	61262967	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:61262967G>A	ENST00000261245.4	+	2	223	c.122G>A	c.(121-123)aGa>aAa	p.R41K	MNAT1_ENST00000539616.2_Missense_Mutation_p.R41K	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	41					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein complex assembly|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cytoplasm|holo TFIIH complex	protein N-terminus binding|zinc ion binding			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		CTGTTTGTGAGAGGAGCTGGA	0.403000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					32	31					0	0	1	0	0
SERPINF1	5176	broad.mit.edu	37	17	1673277	1673277	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:1673277G>A	ENST00000254722.4	+	3	379	c.216G>A	c.(214-216)acG>acA	p.T72T	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	72			T -> M (in dbSNP:rs1136287).		cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GATCCAGCACGAGCCCCACGA	0.622000													31	39					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71660293	71660293	+	Splice_Site	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:71660293A>G	ENST00000409544.1	+	27	6382		c.e27-1		ZNF638_ENST00000409407.1_Splice_Site|ZNF638_ENST00000264447.4_Splice_Site|ZNF638_ENST00000355812.3_Splice_Site	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638						RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTTATCCTCTAGAATTAGACT	0.363000													118	64					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529518	57529518	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:57529518C>G	ENST00000420713.1	+	4	1463	c.1351C>G	c.(1351-1353)Cta>Gta	p.L451V		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CTCCTCAACTCTAAATACTCA	0.358000													10	9					0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64779058	64779058	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:64779058C>T	ENST00000422803.1	+	2	764	c.450C>T	c.(448-450)ttC>ttT	p.F150F	AFTPH_ENST00000238855.7_Silent_p.F150F|AFTPH_ENST00000409933.1_Silent_p.F150F|AFTPH_ENST00000238856.4_Silent_p.F150F			Q6ULP2	AFTIN_HUMAN	aftiphilin	150					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						TTGAAAGTTTCTCTCCAGGAG	0.378000													44	35					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1397610	1397610	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:1397610T>C	ENST00000324385.5	+	30	3151	c.2993T>C	c.(2992-2994)cTg>cCg	p.L998P	BAIAP3_ENST00000397489.1_Missense_Mutation_p.L980P|BAIAP3_ENST00000421665.2_Missense_Mutation_p.L927P|BAIAP3_ENST00000568887.1_Missense_Mutation_p.L935P|BAIAP3_ENST00000562208.1_Missense_Mutation_p.L940P|BAIAP3_ENST00000426824.3_Missense_Mutation_p.L963P|BAIAP3_ENST00000397488.2_Missense_Mutation_p.L980P	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	998					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CAGTTCTACCTGGACAAGCTC	0.657000													4	26					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30054229	30054229	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:30054229C>T	ENST00000338641.4	+	7	1092	c.651C>T	c.(649-651)taC>taT	p.Y217Y	NF2_ENST00000347330.5_Intron|NF2_ENST00000403435.1_Silent_p.Y217Y|NF2_ENST00000334961.7_Silent_p.Y134Y|NF2_ENST00000361452.4_Silent_p.Y176Y|NF2_ENST00000361166.4_Silent_p.Y217Y|NF2_ENST00000361676.4_Silent_p.Y175Y|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Silent_p.Y134Y|NF2_ENST00000397789.3_Silent_p.Y217Y|NF2_ENST00000403999.3_Silent_p.Y217Y	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	217	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.Q212fs*8(1)|p.E215fs*4(1)|p.M216fs*7(1)|p.L208fs*26(1)|p.Y207fs*27(1)|p.Y217fs*1(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TGGAGATGTACGGTGTGAACT	0.483000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				32	20					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36888365	36888365	+	Splice_Site	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr13:36888365C>G	ENST00000451493.1	-	6	1699	c.1482G>C	c.(1480-1482)ctG>ctC	p.L494L	SPG20_ENST00000355182.4_Splice_Site_p.L494L|SPG20_ENST00000494062.2_Splice_Site_p.L494L|SPG20_ENST00000438666.2_Splice_Site_p.L494L	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	494					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTACTTTACCCAGGAACTGAC	0.363000													38	56					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1539974	1539974	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:1539974G>A	ENST00000389470.4	-	5	761	c.762C>T	c.(760-762)atC>atT	p.I254I	INTS1_ENST00000404767.3_Silent_p.I126I|INTS1_ENST00000493531.1_5'UTR			Q8N201	INT1_HUMAN	integrator complex subunit 1	126					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGGCCGCCTCGATCTCATCCA	0.692000													3	4					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45749910	45749910	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:45749910G>C	ENST00000357450.4	-	21	3220	c.3221C>G	c.(3220-3222)tCa>tGa	p.S1074*	SMC1B_ENST00000404354.3_Nonsense_Mutation_p.S1074*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1074					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATTGAGATTGAGACATGCTC	0.423000													38	42					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48905225	48905225	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:48905225C>T	ENST00000316623.5	-	3	684	c.229G>A	c.(229-231)Gga>Aga	p.G77R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	77					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACTGATTTCCGCCAGGTAAG	0.393000													11	77					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419271	105419271	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:105419271C>G	ENST00000333244.5	-	7	2636	c.2517G>C	c.(2515-2517)aaG>aaC	p.K839N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	839						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGATGGCATCTTGAACTTGG	0.612000													141	307					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215775482	215775482	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:215775482G>A	ENST00000259154.4	+	12	1371	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	359						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TAACTGAACTGTATCATGATC	0.313000													27	125					0	0	1	0	0
MRPS22	56945	broad.mit.edu	37	3	139065764	139065764	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:139065764G>A	ENST00000495075.1	+	4	649	c.217G>A	c.(217-219)Gag>Aag	p.E73K	MRPS22_ENST00000310776.4_Missense_Mutation_p.E73K|MRPS22_ENST00000478464.1_Missense_Mutation_p.E32K|MRPS22_ENST00000465056.1_Missense_Mutation_p.E72K			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	73						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						ATTTATGGATGAGGAAGTTCA	0.388000													62	52					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325105	9325105	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:9325105T>G	ENST00000308682.2	-	1	437	c.409A>C	c.(409-411)Aac>Cac	p.N137H		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGCAGGGGTTCATGATGACC	0.498000													29	56					0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92757025	92757025	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:92757025C>G	ENST00000370360.3	-	4	316	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	GLMN_ENST00000534881.1_Missense_Mutation_p.E79Q	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	79					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTACTATCCTCTTTATCTTTA	0.318000									Multiple Glomus Tumors (of the Skin), Familial				9	54					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507779	155507779	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:155507779C>T	ENST00000302053.3	-	5	880	c.802G>A	c.(802-804)Gag>Aag	p.E268K	FGA_ENST00000403106.3_Missense_Mutation_p.E268K	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	268					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CGAGTAATCTCATTTCCACCA	0.527000													7	152					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160609008	160609008	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:160609008G>A	ENST00000259050.4	+	6	1831	c.1709G>A	c.(1708-1710)tGc>tAc	p.C570Y	MARCH7_ENST00000409591.1_Missense_Mutation_p.C532Y|MARCH7_ENST00000409175.1_Missense_Mutation_p.C570Y|MARCH7_ENST00000539065.1_Missense_Mutation_p.C514Y	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase								ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ATAGAGCCATGCAAGTGCACA	0.403000													20	364					0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23641161	23641161	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:23641161C>T	ENST00000261584.4	-	5	2466	c.2314G>A	c.(2314-2316)Gat>Aat	p.D772N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	772					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGTTTAGTATCACTGGCAAGA	0.493000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					15	35					0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54923765	54923765	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:54923765C>T	ENST00000396865.2	-	15	2065	c.1474G>A	c.(1474-1476)Gga>Aga	p.G492R	SLC38A9_ENST00000318672.3_Missense_Mutation_p.G492R|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000416547.2_Missense_Mutation_p.G368R|SLC38A9_ENST00000515629.1_Missense_Mutation_p.G429R|SLC38A9_ENST00000512595.1_Missense_Mutation_p.G429R	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	492					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATGATCACTCCAGCTCCCACA	0.368000													28	25					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55421386	55421386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:55421386G>T	ENST00000594765.1	+	5	668	c.643G>T	c.(643-645)Gag>Tag	p.E215*	NCR1_ENST00000291890.4_Nonsense_Mutation_p.E215*|NCR1_ENST00000357397.5_Nonsense_Mutation_p.E108*|NCR1_ENST00000598576.1_Nonsense_Mutation_p.E203*|NCR1_ENST00000447255.1_Nonsense_Mutation_p.E215*|NCR1_ENST00000338835.5_Nonsense_Mutation_p.E215*|NCR1_ENST00000350790.5_Nonsense_Mutation_p.E120*			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	215					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AGGCGACATTGAGAACACCAG	0.423000													31	141					2.61193e-14	2.75898e-14	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44922695	44922695	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:44922695G>A	ENST00000377967.4	+	16	1597	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	KDM6A_ENST00000536777.1_Missense_Mutation_p.R474Q|KDM6A_ENST00000382899.4_Missense_Mutation_p.R526Q|KDM6A_ENST00000543216.1_Missense_Mutation_p.R440Q	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	519					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCACAGGTACGATCTACTGGA	0.463000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								28	53					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80037340	80037340	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:80037340C>T	ENST00000306749.2	-	42	7509	c.7291G>A	c.(7291-7293)Gag>Aag	p.E2431K	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2431	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GTGTACTGCTCAGCGGCACGC	0.647000													35	13					0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41799416	41799416	+	Missense_Mutation	SNP	C	C	T	rs141709767		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:41799416C>T	ENST00000263800.6	-	11	1514	c.1418G>A	c.(1417-1419)cGa>cAa	p.R473Q	LTK_ENST00000453182.2_Intron|LTK_ENST00000561619.1_Missense_Mutation_p.R171Q|LTK_ENST00000355166.5_Missense_Mutation_p.R412Q	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	473					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGCAGAGGTTCGAAGCTTGCT	0.617000										TSP Lung(18;0.14)			5	26					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751881	140751881	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:140751881G>A	ENST00000576222.1	+	1	2051	c.1920G>A	c.(1918-1920)caG>caA	p.Q640Q	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCCGCCAGCGCCTGCTGG	0.642000													45	20					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79755491	79755491	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:79755491G>A	ENST00000305428.3	+	3	2456	c.2381G>A	c.(2380-2382)aGc>aAc	p.S794N		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	794						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						CAGGTGTTCAGCCCTCACCCC	0.622000													28	23					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141554353	141554353	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:141554353G>A	ENST00000220592.5	-	14	1910	c.1798C>T	c.(1798-1800)Cac>Tac	p.H600Y	AGO2_ENST00000519980.1_Missense_Mutation_p.H600Y	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GCGGGGGGGTGAGTGACGTCT	0.647000													91	125					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50887023	50887023	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:50887023G>A	ENST00000380817.3	-	37	5283	c.5100C>T	c.(5098-5100)acC>acT	p.T1700T	SBF1_ENST00000390679.3_Silent_p.T1674T|SBF1_ENST00000348911.6_Silent_p.T1675T	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCCGGTCCCAGGTGTCCTTCC	0.612000													20	23					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768840	88768840	+	RNA	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:88768840T>A	ENST00000444431.1	+	0	3440				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGTTTATGATTGTGTCCGTCA	0.488000													48	89					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48807271	48807271	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:48807271G>A	ENST00000315396.7	-	7	1363	c.681C>T	c.(679-681)ctC>ctT	p.L227L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	227										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TCTTGAGCTTGAGGAAGTGGT	0.632000													39	67					0	0	1	0	0
NR1I3	9970	broad.mit.edu	37	1	161205687	161205687	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:161205687C>T	ENST00000367983.4	-	3	482	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	NR1I3_ENST00000367979.2_Missense_Mutation_p.C63Y|NR1I3_ENST00000437437.2_Missense_Mutation_p.C34Y|NR1I3_ENST00000511748.1_Missense_Mutation_p.C34Y|NR1I3_ENST00000508740.1_Missense_Mutation_p.C34Y|NR1I3_ENST00000412844.2_Missense_Mutation_p.C34Y|NR1I3_ENST00000515452.1_Missense_Mutation_p.C63Y|NR1I3_ENST00000367981.3_Missense_Mutation_p.C34Y|NR1I3_ENST00000367985.3_Missense_Mutation_p.C63Y|NR1I3_ENST00000442691.2_Missense_Mutation_p.C63Y|NR1I3_ENST00000505005.1_Missense_Mutation_p.C63Y|NR1I3_ENST00000515621.1_5'UTR|NR1I3_ENST00000506209.1_Missense_Mutation_p.C34Y|NR1I3_ENST00000504010.1_Missense_Mutation_p.C34Y|NR1I3_ENST00000367984.4_Missense_Mutation_p.C63Y|NR1I3_ENST00000511944.1_Missense_Mutation_p.C63Y|NR1I3_ENST00000502985.1_Missense_Mutation_p.C63Y|NR1I3_ENST00000511676.1_Missense_Mutation_p.C34Y|NR1I3_ENST00000367980.2_Missense_Mutation_p.C63Y|NR1I3_ENST00000512372.1_Missense_Mutation_p.C34Y|NR1I3_ENST00000428574.2_Missense_Mutation_p.C63Y|NR1I3_ENST00000367982.4_Missense_Mutation_p.C63Y|NR1I3_ENST00000508387.1_Missense_Mutation_p.C34Y			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	63					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCAGGCTGGGCAGTGGCGCCT	0.527000													12	74					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33620407	33620407	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:33620407C>T	ENST00000321505.4	+	12	4082	c.3902C>T	c.(3901-3903)tCa>tTa	p.S1301L	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.S1307L|KIAA1549L_ENST00000265654.5_3'UTR					KIAA1549-like																		AGCAACGAATCAGGGAAGCCC	0.542000													21	21					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47769704	47769704	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr21:47769704C>T	ENST00000359568.5	+	8	1421	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	438	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGTTCAAGTTCAAAGAGAGCG	0.443000													37	51					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150820943	150820943	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:150820943C>T	ENST00000397238.2	+	9	1191	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	AGAP3_ENST00000463381.1_Silent_p.I169I	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	361	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGGACAGCATCGGGAGCGGCC	0.632000											OREG0018449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	52					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36976744	36976744	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:36976744T>C	ENST00000274963.8	+	2	374	c.203T>C	c.(202-204)gTc>gCc	p.V68A		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	68					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CCCAGGACAGTCAGCAGGAGG	0.632000													4	26					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48197826	48197826	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:48197826G>T	ENST00000396720.3	+	8	2932	c.2738G>T	c.(2737-2739)aGc>aTc	p.S913I	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	913							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TTCCCACCCAGCCAGGGGCCC	0.682000													8	22					5.50884e-06	5.64656e-06	1	1	0
RELN	5649	broad.mit.edu	37	7	103126790	103126790	+	Silent	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:103126790G>C	ENST00000424685.2	-	61	9996	c.9837C>G	c.(9835-9837)acC>acG	p.T3279T	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Silent_p.T3279T|RELN_ENST00000343529.5_Silent_p.T3279T			P78509	RELN_HUMAN	reelin	3279					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)		AGTTTGCCTCGGTGACTCTTG	0.498000													38	92					0	0	1	0	0
SNX29P2	440352	broad.mit.edu	37	16	29376189	29376189	+	RNA	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:29376189C>T	ENST00000398878.3	+	0	1617				SNX29P2_ENST00000507381.1_RNA																							AAAGCCCCTTCGGGCCAAACT	0.502000													16	43					0	0	1	0	0
SDHD	6392	broad.mit.edu	37	11	111957681	111957681	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:111957681G>C	ENST00000375549.3	+	1	185	c.50G>C	c.(49-51)cGa>cCa	p.R17P	SDHD_ENST00000528021.1_Missense_Mutation_p.R17P|SDHD_ENST00000532699.1_Missense_Mutation_p.R17P|SDHD_ENST00000525291.1_Missense_Mutation_p.R17P|SDHD_ENST00000528182.1_Missense_Mutation_p.R17P|SDHD_ENST00000526592.1_Missense_Mutation_p.R17P|SDHD_ENST00000528048.1_Missense_Mutation_p.R17P	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	17					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)	CTAGGAGGCCGAGGTGAGGGG	0.617000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				8	22					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412530	63412530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:63412530G>A	ENST00000330258.3	-	2	909	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	AMER1_ENST00000403336.1_Nonsense_Mutation_p.Q213*|AMER1_ENST00000374869.3_Nonsense_Mutation_p.Q213*	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CAGGGCACCTGAGGGGCTGAG	0.592000													20	37					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119428085	119428085	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:119428085G>A	ENST00000369429.3	-	8	1088	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	TBX15_ENST00000207157.3_Missense_Mutation_p.S254L			Q96SF7	TBX15_HUMAN	T-box 15	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGAAGAAGCCGAAGGGGATGG	0.478000													8	37					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29745221	29745221	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:29745221C>T	ENST00000357586.2	-	11	1609	c.1423G>A	c.(1423-1425)Gac>Aac	p.D475N	AP1B1_ENST00000356015.2_Missense_Mutation_p.D475N|AP1B1_ENST00000432560.2_Missense_Mutation_p.D475N|AP1B1_ENST00000402502.1_Missense_Mutation_p.D475N|AP1B1_ENST00000415447.1_Missense_Mutation_p.D475N|AP1B1_ENST00000405198.1_Missense_Mutation_p.D475N|AP1B1_ENST00000317368.7_Missense_Mutation_p.D475N	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	475					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GTGCTCTCGTCATGGAAGCCC	0.622000													34	27					0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71503963	71503963	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:71503963G>A	ENST00000265382.3	+	7	690	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.V129M	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	129	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTTGTTTTTTGTGACCAGTGA	0.383000													50	74					0	0	1	0	0
RWDD3	25950	broad.mit.edu	37	1	95709781	95709781	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:95709781G>T	ENST00000429514.2	+	3	261	c.55G>T	c.(55-57)Gtg>Ttg	p.V19L	RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000370202.4_Missense_Mutation_p.V34L|RWDD3_ENST00000263893.6_Missense_Mutation_p.V34L|RP11-57H12.5_ENST00000444665.1_RNA|RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.R194L			Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	34	RWD.					cytoplasm|nucleus	protein binding	p.V34L(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGATGGGACCGTGTTCAGAAT	0.388000													48	47					3.4597e-24	3.71473e-24	1	1	0
CT47A6	728062	broad.mit.edu	37	X	120094344	120094344	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:120094344C>T	ENST00000443600.2	-	1	993	c.739G>A	c.(739-741)Gag>Aag	p.E247K	CT47A5_ENST00000419194.2_Intron	NM_001080141.1	NP_001073610.1	Q5JQC4	CT47A_HUMAN	cancer/testis antigen family 47, member A6	247										large_intestine(1)|lung(4)	5						TCCTTACCCTCTGGGGCCGTG	0.682000													108	235					0	0	1	0	0
ZNF215	7762	broad.mit.edu	37	11	6953674	6953674	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:6953674G>A	ENST00000278319.5	+	3	759	c.171G>A	c.(169-171)ttG>ttA	p.L57L	ZNF215_ENST00000529903.1_Silent_p.L57L|ZNF215_ENST00000414517.2_Silent_p.L57L|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	57	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TCCAGTATTTGAAAGTGTCTG	0.478000													30	26					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799716	119799716	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:119799716A>G	ENST00000355624.3	-	2	1153	c.714T>C	c.(712-714)tcT>tcC	p.S238S	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.S238S	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	238					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TCAGTTTCTCAGAAGACATAT	0.443000													52	75					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759041	94759041	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:94759041A>T	ENST00000450979.2	+	1	620	c.320A>T	c.(319-321)tAt>tTt	p.Y107F		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	107					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(1)|endometrium(7)|kidney(1)|lung(3)	12						AGTAAAAAATATCAGACTCCG	0.493000													4	3					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78280821	78280821	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:78280821T>C	ENST00000264914.4	-	1	787	c.251A>G	c.(250-252)aAc>aGc	p.N84S	ARSB_ENST00000396151.3_Missense_Mutation_p.N84S|ARSB_ENST00000565165.1_Missense_Mutation_p.N84S	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	84					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CGTGTAGTAGTTGTCCAGGAG	0.756000													7	9					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147470785	147470785	+	Silent	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:147470785T>A	ENST00000359874.3	+	8	733	c.660T>A	c.(658-660)gcT>gcA	p.A220A	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Silent_p.A220A|SPINK5_ENST00000256084.7_Silent_p.A220A	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	220	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGAAATGCTGAAAAGGTAA	0.343000													14	17					0	0	1	0	0
PELO	53918	broad.mit.edu	37	5	52096867	52096867	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:52096867G>A	ENST00000274311.2	+	2	1624	c.639G>A	c.(637-639)gtG>gtA	p.V213V	ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	213					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				CAGGATTTGTGAGGGAGCAGT	0.498000													28	31					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	124235064	124235064	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:124235064G>A	ENST00000274008.4	+	16	2596	c.2527G>A	c.(2527-2529)Gca>Aca	p.A843T		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CTGCAGAGAGGCAGCTCTTCT	0.368000													4	63					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147497	145147497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:145147497G>A	ENST00000558170.2	-	10	4350	c.3166C>T	c.(3166-3168)Cag>Tag	p.Q1056*	ZEB2_ENST00000539609.3_Nonsense_Mutation_p.Q1032*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.Q1056*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.Q1056*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1056						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTATCACACTGATAGGGCTTC	0.512000													15	42					0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118473075	118473075	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:118473075C>T	ENST00000315436.3	-	7	1029	c.888G>A	c.(886-888)ctG>ctA	p.L296L	WSB2_ENST00000441406.2_Silent_p.L313L|WSB2_ENST00000544233.1_Silent_p.L86L|WSB2_ENST00000542304.1_Silent_p.L71L|WSB2_ENST00000535496.1_Silent_p.L298L	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	296					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACACAGATCTCAGTGAGCTAA	0.532000											OREG0022175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	30					0	0	1	0	0
STX10	8677	broad.mit.edu	37	19	13260626	13260626	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:13260626C>T	ENST00000589083.1	-	2	173	c.121G>A	c.(121-123)Gag>Aag	p.E41K	STX10_ENST00000343587.5_Missense_Mutation_p.E41K|STX10_ENST00000242770.5_Missense_Mutation_p.E41K|STX10_ENST00000587230.1_Missense_Mutation_p.E41K	NM_001271610.1	NP_001258539.1	O60499	STX10_HUMAN	syntaxin 10	41					Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TCCAGCTCCTCGCGTCCGACC	0.667000											OREG0025290	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	14					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46760016	46760016	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:46760016G>A	ENST00000262738.3	-	34	8911	c.8912C>T	c.(8911-8913)tCt>tTt	p.S2971F		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2971					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGGGCCGCCAGAGCCCAGGGA	0.697000													33	25					0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219922390	219922390	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:219922390C>T	ENST00000295731.6	-	2	341	c.342G>A	c.(340-342)ctG>ctA	p.L114L		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGAGATAGCCAGCGAGTTCA	0.632000													32	8					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66664973	66664973	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:66664973G>A	ENST00000488550.1	+	2	416	c.117G>A	c.(115-117)ctG>ctA	p.L39L	MEIS1_ENST00000444274.2_Silent_p.L7L|MEIS1_ENST00000398506.2_Silent_p.L37L|MEIS1_ENST00000407092.2_Silent_p.L39L|MEIS1_ENST00000560281.2_Silent_p.L39L|MEIS1_ENST00000272369.9_Silent_p.L39L			O00470	MEIS1_HUMAN	Meis homeobox 1	39							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TCCACCACCTGAACCACGGGC	0.602000													12	39					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438392	120438392	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:120438392C>T	ENST00000369400.1	-	1	726	c.568G>A	c.(568-570)Gcg>Acg	p.A190T		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	190					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTTAGCCTCGCCTTATTCTCA	0.413000													93	47					0	0	1	0	0
ZNF487	642819	broad.mit.edu	37	10	43977929	43977929	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:43977929C>T	ENST00000431662.1	+	5	844	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	ZNF487_ENST00000437590.2_3'UTR																							AGAACACACACGGGACAAAAC	0.413000													3	4					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1561929	1561929	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:1561929G>A	ENST00000572621.1	-	32	5532	c.5267C>T	c.(5266-5268)tCt>tTt	p.S1756F	PRPF8_ENST00000304992.6_Missense_Mutation_p.S1756F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1756	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGTGGGTTCAGATGAATAGAG	0.483000													16	45					0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184040744	184040744	+	Splice_Site	SNP	T	T	G	rs112998587		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:184040744T>G	ENST00000342981.4	+	12	2343		c.e12+2		EIF4G1_ENST00000350481.5_Splice_Site|EIF4G1_ENST00000414031.1_Splice_Site|EIF4G1_ENST00000424196.1_Splice_Site|EIF4G1_ENST00000434061.2_Splice_Site|EIF4G1_ENST00000411531.1_Splice_Site|EIF4G1_ENST00000352767.3_Splice_Site|EIF4G1_ENST00000382330.3_Splice_Site|EIF4G1_ENST00000346169.2_Splice_Site|EIF4G1_ENST00000319274.6_Splice_Site|EIF4G1_ENST00000427845.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Splice_Site|EIF4G1_ENST00000392537.2_Splice_Site|EIF4G1_ENST00000435046.2_Splice_Site	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1						insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGGACAAGGTTAGTGGCTTC	0.522000													97	102					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52882180	52882180	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:52882180C>T	ENST00000330722.6	-	7	1424	c.1356G>A	c.(1354-1356)atG>atA	p.M452I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	452	Coil 2.|Rod.				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)		GCTTGACATTCATCAGCTCCT	0.597000													36	71					0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50360975	50360975	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:50360975C>T	ENST00000391842.1	+	7	910	c.740C>T	c.(739-741)tCa>tTa	p.S247L	PTOV1_ENST00000599732.1_Missense_Mutation_p.S247L|PTOV1_ENST00000601675.1_Missense_Mutation_p.S247L|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000601638.1_Missense_Mutation_p.S215L|PTOV1_ENST00000600603.1_Missense_Mutation_p.S215L|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000221557.9_Missense_Mutation_p.S215L	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	247	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGTGTCAACTCAGGCCCAGTC	0.622000													11	21					0	0	1	0	0
PURA	5813	broad.mit.edu	37	5	139494639	139494639	+	Silent	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:139494639C>G	ENST00000331327.3	+	1	932	c.873C>G	c.(871-873)gcC>gcG	p.A291A		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	291					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGGCTGCCTGTGagcagc	0.572000													26	17					0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114905895	114905895	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:114905895C>T	ENST00000374270.3	-	4	554	c.382G>A	c.(382-384)Gag>Aag	p.E128K	SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Missense_Mutation_p.E128K|SUSD1_ENST00000374264.2_Missense_Mutation_p.E128K	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	128	EGF-like 3; calcium-binding (Potential).					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACTTCACACTCATCTATGTCT	0.418000													5	62					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5222811	5222811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:5222811G>A	ENST00000372412.4	-	18	3228	c.2995C>T	c.(2995-2997)Cag>Tag	p.Q999*	PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000348075.2_Nonsense_Mutation_p.Q976*|PTPRS_ENST00000588012.1_Nonsense_Mutation_p.Q976*|PTPRS_ENST00000357368.4_Nonsense_Mutation_p.Q998*|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000262963.6_Nonsense_Mutation_p.Q994*|PTPRS_ENST00000587303.1_Nonsense_Mutation_p.Q998*			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	998	Fibronectin type-III 7.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTCAGGCCCTGCAGCGTGAGC	0.736000													15	17					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11063030	11063030	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:11063030C>T	ENST00000409790.1	+	4	586	c.356C>T	c.(355-357)tCa>tTa	p.S119L	CLEC16A_ENST00000409552.3_Missense_Mutation_p.S119L	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	119										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TATTTGCTCTCAAATAACTAC	0.343000													9	31					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65677303	65677303	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:65677303C>T	ENST00000352385.2	-	19	3540	c.3331G>A	c.(3331-3333)Gac>Aac	p.D1111N	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1111						integral to membrane|plasma membrane		p.D1111Y(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTTATGGCGTCGTACACCAGA	0.632000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	44					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10918703	10918703	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:10918703C>T	ENST00000381661.3	+	11	940	c.831C>T	c.(829-831)ccC>ccT	p.P277P	ATP6V1C2_ENST00000272238.4_Silent_p.P323P	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	323					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TGCAGGGCCCCCTGCTGCGCT	0.587000													38	22					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86317019	86317019	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:86317019C>T	ENST00000263857.6	-	4	844	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E156K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	156					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCCCGAATTTCAGAGGCAGAG	0.458000													42	33					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219685	155219685	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:155219685A>G	ENST00000357232.4	-	18	4415	c.4416T>C	c.(4414-4416)aaT>aaC	p.N1472N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GACTGTGGTCATTGGCATCCA	0.463000													54	82					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97216866	97216866	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:97216866G>A	ENST00000454558.2	+	7	1574	c.397G>A	c.(397-399)Gct>Act	p.A133T	ARID5A_ENST00000357485.3_Missense_Mutation_p.A201T			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	201	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AGCAGATGCTGCTGACCCAGC	0.597000													24	173					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6713973	6713973	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:6713973C>T	ENST00000377577.5	-	5	628	c.505G>A	c.(505-507)Gag>Aag	p.E169K	DNAJC11_ENST00000349363.6_Missense_Mutation_p.E131K|DNAJC11_ENST00000542246.1_Missense_Mutation_p.E131K|DNAJC11_ENST00000377573.5_Missense_Mutation_p.E79K|DNAJC11_ENST00000294401.7_Missense_Mutation_p.E169K	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	169					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|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;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTTTACCTCAATGGACTGG	0.478000													47	55					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18759456	18759456	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:18759456C>T	ENST00000396170.1	-	9	2139	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	PTPN5_ENST00000477854.1_Missense_Mutation_p.R128Q|PTPN5_ENST00000396168.1_Missense_Mutation_p.R300Q|PTPN5_ENST00000396167.2_Missense_Mutation_p.R292Q|PTPN5_ENST00000396171.4_Missense_Mutation_p.R324Q|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000358540.2_Missense_Mutation_p.R324Q	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	324						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CCGGTTCTTCCGCACCAGCCC	0.577000													40	27					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79516290	79516290	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:79516290C>T	ENST00000537152.1	-	4	1417	c.892G>A	c.(892-894)Gag>Aag	p.E298K	C17orf70_ENST00000327787.8_Missense_Mutation_p.E449K	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	449					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTGCACTCTCTGTGGTCATC	0.607000													3	50					0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73836392	73836392	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:73836392C>T	ENST00000207549.4	-	10	1151	c.772G>A	c.(772-774)Gac>Aac	p.D258N	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.D258N	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	258	Interaction with RAB27A.				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)			TACCACTGGTCCTCTCGGCAG	0.652000									Familial Hemophagocytic Lymphohistiocytosis				29	11					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18963874	18963874	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:18963874G>A	ENST00000262803.5	+	7	1323	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	UPF1_ENST00000599848.1_Missense_Mutation_p.D351N	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	351	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCCAAGACTGACTCTGGTAA	0.388000													19	46					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132195791	132195791	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:132195791G>A	ENST00000261674.4	+	1	158	c.17G>A	c.(16-18)gGg>gAg	p.G6E	SFSWAP_ENST00000541286.1_Missense_Mutation_p.G6E	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	6					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GGCGCGAGCGGGGGCCGCGCC	0.697000													7	18					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145075742	145075742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:145075742G>A	ENST00000369359.4	-	1	159	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.Q41*|PDE4DIP_ENST00000369345.4_Nonsense_Mutation_p.Q41*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q41*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGTGGGGACTGAGGGGTTCGC	0.736000			T	PDGFRB	MPD								5	134					0	0	1	0	0
PQLC1	80148	broad.mit.edu	37	18	77710917	77710917	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr18:77710917C>T	ENST00000397778.2	-	2	192	c.10G>A	c.(10-12)Gag>Aag	p.E4K	PQLC1_ENST00000357575.4_Missense_Mutation_p.E4K|PQLC1_ENST00000590381.1_Missense_Mutation_p.E4K	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	4						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TCCAGGCCCTCGGCCTCCATC	0.766000													4	3					0	0	1	0	0
PSMD10	5716	broad.mit.edu	37	X	107331016	107331016	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:107331016T>C	ENST00000217958.3	-	4	524	c.427A>G	c.(427-429)Atg>Gtg	p.M143V	PSMD10_ENST00000372295.1_Missense_Mutation_p.M102V|PSMD10_ENST00000340200.5_Missense_Mutation_p.M110V|PSMD10_ENST00000372296.1_Missense_Mutation_p.M102V|PSMD10_ENST00000361815.5_Missense_Mutation_p.M143V	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	143	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCCGGTGCATTGCTGTAGCC	0.463000													4	114					0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3660921	3660921	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:3660921G>A	ENST00000397068.3	-	2	1130	c.738C>T	c.(736-738)ctC>ctT	p.L246L	ART5_ENST00000359918.4_Silent_p.L246L|ART5_ENST00000397067.3_Intron	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	246						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATAGCTCCAGAGAGTCACCA	0.522000													43	42					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153905712	153905712	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:153905712G>A	ENST00000361217.4	-	21	3832	c.3414C>T	c.(3412-3414)ctC>ctT	p.L1138L		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1138	Ser-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGTGTCACTGAGGCGCTCTG	0.547000													23	10					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475393	32475393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:32475393G>A	ENST00000404025.2	-	5	2028	c.1540C>T	c.(1540-1542)Caa>Taa	p.Q514*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.Q514*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.Q514*|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	514					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CAGCCGTGTTGATACACTGCT	0.507000													44	40					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136337194	136337194	+	Silent	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:136337194C>G	ENST00000371899.4	-	10	1550	c.1473G>C	c.(1471-1473)ctG>ctC	p.L491L	SLC2A6_ENST00000371897.4_Silent_p.L429L|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	491						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		CGATCTGCTCCAGGGACCGTC	0.637000													31	38					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401661	1401661	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:1401661C>A	ENST00000381524.3	+	3	251	c.65C>A	c.(64-66)cCa>cAa	p.P22Q	CSF2RA_ENST00000381529.3_Missense_Mutation_p.P22Q|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.P22Q|CSF2RA_ENST00000361536.3_Missense_Mutation_p.P22Q|CSF2RA_ENST00000494969.2_Missense_Mutation_p.P22Q|CSF2RA_ENST00000355805.2_Missense_Mutation_p.P22Q|CSF2RA_ENST00000355432.3_Missense_Mutation_p.P22Q|CSF2RA_ENST00000432318.2_Missense_Mutation_p.P22Q|CSF2RA_ENST00000381500.1_Missense_Mutation_p.P22Q|CSF2RA_ENST00000381509.3_Missense_Mutation_p.P22Q			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	22						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCCTGATCCCAGAGAAATCG	0.542000													5	179					0.000602214	0.000611046	1	1	0
SLC25A20	788	broad.mit.edu	37	3	48936180	48936180	+	Silent	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:48936180G>C	ENST00000319017.4	-	1	246	c.48C>G	c.(46-48)gcC>gcG	p.A16A	SLC25A20_ENST00000544097.1_5'UTR|SLC25A20_ENST00000430379.1_Silent_p.A16A	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	16					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CAAAGCCGCCGGCCAGCAGGT	0.667000													4	7					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2014322	2014322	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:2014322C>T	ENST00000343262.4	-	3	278	c.222G>A	c.(220-222)aaG>aaA	p.K74K	RPS2_ENST00000529806.1_Intron|RPS2_ENST00000530225.1_Silent_p.K74K|RPS2_ENST00000526522.1_Silent_p.K74K	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	74					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGGACTTGATCTTCATGTCCT	0.602000													12	29					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112732995	112732995	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:112732995G>A	ENST00000295408.4	+	7	1347	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	MERTK_ENST00000409780.1_Missense_Mutation_p.E188K|MERTK_ENST00000421804.2_Missense_Mutation_p.E364K			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	364	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CTGCATGAATGAAATAGGCTG	0.468000													48	51					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9512551	9512551	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:9512551G>A	ENST00000402466.1	+	20	3607	c.2839G>A	c.(2839-2841)Ggt>Agt	p.G947S	SETD5_ENST00000302463.6_Missense_Mutation_p.G947S|SETD5_ENST00000407969.1_Missense_Mutation_p.G1064S|SETD5_ENST00000402198.1_Missense_Mutation_p.G1045S|SETD5_ENST00000406341.1_Missense_Mutation_p.G1045S			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1045										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTTGTCACCTGGTGGTGAAAG	0.463000													5	19					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25203031	25203031	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:25203031C>T	ENST00000276440.7	+	26	2702	c.2658C>T	c.(2656-2658)ctC>ctT	p.L886L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	886						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGACCAGCTCAGCGGCCAGT	0.557000													23	18					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30906343	30906343	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:30906343C>T	ENST00000251071.5	-	1	1105	c.355G>A	c.(355-357)Gag>Aag	p.E119K	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E119K|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.E119K|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E119K	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	119					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)					ATATAGGTCTCATACGCTTGG	0.458000											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	59					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155203500	155203500	+	Splice_Site	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:155203500C>G	ENST00000460012.1	-	22	2887		c.e22-1		PLCH1_ENST00000340059.7_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site|PLCH1_ENST00000494598.1_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1						lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTTGTCTGTTCTGAAGACACA	0.398000													17	17					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816197	29816197	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:29816197C>T	ENST00000561482.1	+	12	2173	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	KIF22_ENST00000569382.2_Silent_p.I526I|KIF22_ENST00000160827.4_Silent_p.I580I|KIF22_ENST00000400751.5_Silent_p.I512I	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	580				ENHCPTMLR -> RTIVPQCSG (in Ref. 2; BAA33063).	blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGCTACAGATCAGCCCGGAGC	0.597000													11	10					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17206467	17206467	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:17206467T>C	ENST00000180173.5	-	5	626	c.592A>G	c.(592-594)Aac>Gac	p.N198D	MTMR7_ENST00000521857.1_Missense_Mutation_p.N198D|MTMR7_ENST00000523571.1_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	198	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CTTACGTGGTTATCTTTATAA	0.443000													59	46					0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110305636	110305636	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:110305636C>T	ENST00000239690.4	-	4	951	c.577G>A	c.(577-579)Gat>Aat	p.D193N	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D164N	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	193										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CCTTTCATATCCAATTCCTCT	0.373000													164	39					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40094418	40094418	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:40094418A>G	ENST00000299092.3	-	4	658	c.460T>C	c.(460-462)Tct>Cct	p.S154P	GPR176_ENST00000561100.1_Missense_Mutation_p.S155P|GPR176_ENST00000543580.1_Missense_Mutation_p.S110P|GPR176_ENST00000560729.1_5'UTR	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	155					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TTGGCATCAGATATTTTCCTC	0.443000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	20					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72166806	72166806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:72166806C>A	ENST00000537465.1	-	10	1446	c.1288G>T	c.(1288-1290)Gag>Tag	p.E430*	PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.E285*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.E430*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	430										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTCTCCAGCTCCTTCTCCTTT	0.512000													90	87					5.10314e-47	5.48464e-47	1	1	0
CARD6	84674	broad.mit.edu	37	5	40841567	40841567	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:40841567C>T	ENST00000254691.5	+	1	282	c.83C>T	c.(82-84)tCt>tTt	p.S28F	CARD6_ENST00000381677.3_Missense_Mutation_p.S28F	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	28	CARD.				apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GATCCTGATTCTATCTTAGAC	0.408000													40	74					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058244	56058244	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:56058244G>A	ENST00000313022.2	-	1	322	c.295C>T	c.(295-297)Cag>Tag	p.Q99*		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	99					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)					AAGAACATCTGGGCAAAGCAG	0.428000													6	204					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52192657	52192657	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:52192657G>A	ENST00000371471.2	-	4	3071	c.2646C>T	c.(2644-2646)atC>atT	p.I882I	ZNF217_ENST00000302342.3_Silent_p.I882I			O75362	ZN217_HUMAN	zinc finger protein 217	882					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGGGGTAGTCGATGGAACCAT	0.532000													32	50					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115226850	115226850	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:115226850C>T	ENST00000369538.3	-	4	651	c.604G>A	c.(604-606)Gct>Act	p.A202T	AMPD1_ENST00000520113.2_Missense_Mutation_p.A206T|AMPD1_ENST00000353928.6_Missense_Mutation_p.A173T	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	173					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCTACCCAAGCCTCACCATCA	0.353000													27	46					0	0	1	0	0
CAPN9	10753	broad.mit.edu	37	1	230903449	230903449	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:230903449C>T	ENST00000354537.1	+	5	781	c.699C>T	c.(697-699)ttC>ttT	p.F233F	CAPN9_ENST00000366666.2_Silent_p.F170F|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Silent_p.F233F	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	233	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)				TGGGCTGCTTCATTGATGTAA	0.552000													22	104					0	0	1	0	0
TMEM35	59353	broad.mit.edu	37	X	100349618	100349618	+	Silent	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:100349618C>A	ENST00000372930.4	+	2	460	c.177C>A	c.(175-177)atC>atA	p.I59I	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	59						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						AAATGGGGATCAATTCCATTC	0.473000													58	57					3.56336e-21	3.8039e-21	1	1	0
TRAPPC10	7109	broad.mit.edu	37	21	45511859	45511859	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr21:45511859G>A	ENST00000291574.4	+	19	3101	c.2926G>A	c.(2926-2928)Gat>Aat	p.D976N	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	976					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCAGCTGTCAGATAGTTATCT	0.378000													57	72					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36634740	36634740	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:36634740C>G	ENST00000373448.2	-	4	2600	c.2362G>C	c.(2362-2364)Gag>Cag	p.E788Q	TTI1_ENST00000373447.3_Missense_Mutation_p.E788Q|TTI1_ENST00000449821.1_Missense_Mutation_p.E788Q	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	788							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGACTTCCCTCTTCTCCTAAA	0.448000													35	64					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85400766	85400766	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:85400766G>A	ENST00000258888.5	+	6	3570	c.3403G>A	c.(3403-3405)Gag>Aag	p.E1135K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1135					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CACCAGCAGTGAGGGGGCCTG	0.627000													22	39					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53842752	53842752	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:53842752C>G	ENST00000288139.4	+	47	6004	c.5886C>G	c.(5884-5886)atC>atG	p.I1962M	CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1942M|CACNA1D_ENST00000544977.1_Missense_Mutation_p.I321M|CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1918M	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGTCTCCCATCTTCCCCCATC	0.637000													14	64					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159535122	159535122	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:159535122A>T	ENST00000389757.3	+	20	3282	c.3157A>T	c.(3157-3159)Agt>Tgt	p.S1053C	PKP4_ENST00000389759.3_Missense_Mutation_p.S1096C|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1096					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AATTTACATCAGTTCCTATTC	0.393000										HNSCC(62;0.18)			41	72					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110429507	110429507	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:110429507G>A	ENST00000360185.4	-	2	275	c.111C>T	c.(109-111)gtC>gtT	p.V37V	GIT2_ENST00000547815.1_Silent_p.V37V|GIT2_ENST00000551209.1_Silent_p.V37V|GIT2_ENST00000354574.4_Silent_p.V37V|GIT2_ENST00000457474.2_Silent_p.V37V|GIT2_ENST00000343646.5_Silent_p.V37V|GIT2_ENST00000338373.5_Silent_p.V37V|GIT2_ENST00000361006.5_Silent_p.V37V|GIT2_ENST00000355312.3_Silent_p.V37V|GIT2_ENST00000320063.9_Silent_p.V37V|GIT2_ENST00000553118.1_Silent_p.V37V|GIT2_ENST00000356259.4_Silent_p.V37V	NM_014776.3	NP_055591.2	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	37	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GACTCCGATGGACACTGCAGC	0.498000													39	43					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201018138	201018138	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:201018138G>A	ENST00000362061.3	-	35	4557	c.4331C>T	c.(4330-4332)gCt>gTt	p.A1444V	CACNA1S_ENST00000367338.3_Missense_Mutation_p.A1425V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1444					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TACCTTACAAGCTACCCGATG	0.587000													5	22					0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49148228	49148228	+	Silent	SNP	A	A	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:49148228A>C	ENST00000332408.4	-	8	1592	c.1164T>G	c.(1162-1164)gtT>gtG	p.V388V	SHC4_ENST00000537958.1_Silent_p.V102V|SHC4_ENST00000396535.3_Silent_p.V145V	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	388	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCATATCTGAAACACCACCTA	0.423000													50	22					0	0	1	0	0
TRIM14	9830	broad.mit.edu	37	9	100850141	100850141	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:100850141G>A	ENST00000341469.2	-	6	949	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	TRIM14_ENST00000375098.3_Missense_Mutation_p.R314C|TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000342043.3_Missense_Mutation_p.R314C|TRIM14_ENST00000538344.1_Missense_Mutation_p.R95C	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	314	B30.2/SPRY.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AAGCAGTCACGAGCCAGCACT	0.751000													4	5					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62477079	62477079	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:62477079C>T	ENST00000383710.4	-	21	3310	c.2961G>A	c.(2959-2961)ctG>ctA	p.L987L	CADPS_ENST00000283269.9_Silent_p.L997L|CADPS_ENST00000357948.3_Silent_p.L957L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	987	Interaction with DRD2.|MHD1.				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)		AGGACTCCATCAGATCCACAT	0.428000													79	76					0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39425464	39425464	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:39425464C>T	ENST00000216099.8	+	5	1109	c.702C>T	c.(700-702)acC>acT	p.T234T	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.T234T	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGTGCTTCACCATGGAAGTTA	0.478000													41	100					0	0	1	0	0
EBAG9	9166	broad.mit.edu	37	8	110567076	110567076	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:110567076A>G	ENST00000337573.5	+	4	581	c.281A>G	c.(280-282)tAt>tGt	p.Y94C	EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000395785.2_Missense_Mutation_p.Y94C|EBAG9_ENST00000531677.1_Missense_Mutation_p.Y94C	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	94					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			GAACCTGACTATTTTAAGGAC	0.363000													18	194					0	0	1	0	0
PSMA6	5687	broad.mit.edu	37	14	35782140	35782140	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:35782140G>A	ENST00000261479.4	+	5	583	c.463G>A	c.(463-465)Gat>Aat	p.D155N	PSMA6_ENST00000555764.1_Missense_Mutation_p.D76N|PSMA6_ENST00000553809.1_Missense_Mutation_p.D161N|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000556506.1_Missense_Mutation_p.D155N|PSMA6_ENST00000540871.1_Missense_Mutation_p.D136N	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	155					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|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|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		ATATAAGTGTGATCCTGCAGG	0.363000													58	130					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56505346	56505346	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:56505346G>A	ENST00000370754.5	-	17	1985	c.1986C>T	c.(1984-1986)taC>taT	p.Y662Y	DST_ENST00000370765.6_Silent_p.Y158Y|DST_ENST00000370788.2_Silent_p.Y484Y|DST_ENST00000421834.2_Silent_p.Y484Y|DST_ENST00000361203.3_Silent_p.Y484Y|DST_ENST00000446842.2_Silent_p.Y158Y|DST_ENST00000518935.1_Silent_p.Y158Y|DST_ENST00000312431.6_Silent_p.Y484Y|DST_ENST00000244364.6_Silent_p.Y158Y|DST_ENST00000370769.4_Silent_p.Y484Y			Q03001	DYST_HUMAN	dystonin	484					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCCTTTGCTGTACACAGAAG	0.408000													57	43					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40834847	40834847	+	Translation_Start_Site	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:40834847C>A	ENST00000264638.4	+	0	217				CCR10_ENST00000591765.1_5'UTR	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1						axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTCAGCCCTGCATGATGCATC	0.662000													3	3					0.00024832	0.000252889	1	1	0
AATK	9625	broad.mit.edu	37	17	79094138	79094138	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:79094138C>T	ENST00000326724.4	-	11	3622	c.3598G>A	c.(3598-3600)Gag>Aag	p.E1200K	AATK_ENST00000417379.1_Missense_Mutation_p.E1097K	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1200						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTCTGGCTCTCAGCCACCACC	0.667000													4	35					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13182750	13182750	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:13182750G>A	ENST00000379350.1	+	6	625		c.e6-1		PHACTR1_ENST00000379345.2_Splice_Site|PHACTR1_ENST00000332995.7_Splice_Site|PHACTR1_ENST00000457702.2_Splice_Site|PHACTR1_ENST00000482982.1_Splice_Site			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1							cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCTCTGACAGATGGGGAACT	0.507000													4	109					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288320	132288320	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:132288320G>A	ENST00000467992.2	+	1	1084	c.770G>A	c.(769-771)gGt>gAt	p.G257D	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.G155D			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	155										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTTGCGGGCGGTAGCGCCGAC	0.632000													6	64					0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16657274	16657274	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:16657274T>C	ENST00000443824.1	-	14	2132	c.1389A>G	c.(1387-1389)atA>atG	p.I463M	CTPS2_ENST00000359276.4_Missense_Mutation_p.I463M|CTPS2_ENST00000380241.3_Missense_Mutation_p.I463M	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	463	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ACTTACTTAATATTGAATTTT	0.438000													31	45					0	0	1	0	0
BLOC1S2	282991	broad.mit.edu	37	10	102046409	102046409	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:102046409G>A	ENST00000370372.2	-	1	60	c.8C>T	c.(7-9)gCg>gTg	p.A3V	BLOC1S2_ENST00000361832.2_5'UTR	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	3					melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		CTCGGCTGCCGCCGCCATAGC	0.751000													5	11					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111217021	111217021	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:111217021C>T	ENST00000369769.2	-	1	634	c.411G>A	c.(409-411)atG>atA	p.M137I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	137						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAAGTACCTCATGCGCCGCT	0.642000													37	66					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29221090	29221090	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:29221090A>G	ENST00000321990.4	+	21	5597	c.5219A>G	c.(5218-5220)gAt>gGt	p.D1740G		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1740					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTAGGAAGAGATCCAACCAAC	0.348000													23	63					0	0	1	0	0
BCL2L15	440603	broad.mit.edu	37	1	114424474	114424474	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:114424474C>T	ENST00000393316.3	-	3	566	c.395G>A	c.(394-396)gGa>gAa	p.G132E	BCL2L15_ENST00000471267.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000488450.1_5'UTR|BCL2L15_ENST00000393320.3_Intron	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	132					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCCACCTGTCCCACTACTTC	0.522000													21	29					0	0	1	0	0
SIRT2	22933	broad.mit.edu	37	19	39374367	39374367	+	Silent	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:39374367C>A	ENST00000249396.7	-	9	832	c.531G>T	c.(529-531)ggG>ggT	p.G177G	SIRT2_ENST00000358931.5_Silent_p.G177G|SIRT2_ENST00000392081.2_Silent_p.G140G	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	177	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CCTGTTCCAGCCCGGCTATTC	0.592000													16	22					4.7546e-09	4.93747e-09	1	1	0
COL5A3	50509	broad.mit.edu	37	19	10088293	10088293	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:10088293G>T	ENST00000264828.3	-	42	3188	c.3103C>A	c.(3103-3105)Cct>Act	p.P1035T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1035	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTGCCTGCAGGGCCAACGGGG	0.647000													10	10					4.68919e-08	4.86498e-08	1	1	0
CYHR1	50626	broad.mit.edu	37	8	145690215	145690215	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:145690215G>A	ENST00000438911.2	-	1	203	c.70C>T	c.(70-72)Cac>Tac	p.H24Y	CYHR1_ENST00000424149.2_Missense_Mutation_p.H24Y|CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000403000.2_Missense_Mutation_p.H24Y|CYHR1_ENST00000306145.5_Missense_Mutation_p.H24Y	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	24						perinuclear region of cytoplasm	zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ACGGCTGCGTGCAGAGACACC	0.627000													7	26					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73478017	73478017	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:73478017C>A	ENST00000377110.3	-	3	512	c.269G>T	c.(268-270)gGg>gTg	p.G90V	TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000377111.2_Missense_Mutation_p.G90V|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.G92V|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000423814.3_Missense_Mutation_p.G92V|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000377105.1_5'UTR			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TATCAGACGCCCACAGCAACA	0.468000													22	20					6.44725e-10	6.71412e-10	1	1	0
ZNF275	10838	broad.mit.edu	37	X	152610172	152610172	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:152610172G>C	ENST00000440091.1	+	2	53	c.53G>C	c.(52-54)aGg>aCg	p.R18T	ZNF275_ENST00000370251.3_Intron|ZNF275_ENST00000370249.2_5'UTR|ZNF275_ENST00000421401.3_Intron			A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	0						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCACCACAAGGGAGTGGTTT	0.488000													33	97					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918403	16918403	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:16918403G>A	ENST00000430580.2	-	7	1001	c.114C>T	c.(112-114)ctC>ctT	p.L38L		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	38						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATTTCTCTTTGAGGTTTCTGA	0.468000													66	1041					0	0	1	0	0
GDF7	151449	broad.mit.edu	37	2	20871011	20871011	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:20871011C>T	ENST00000272224.3	+	2	1755	c.1179C>T	c.(1177-1179)acC>acT	p.T393T		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	393					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGAGCCCACCAACCATGCCA	0.647000													15	52					0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139316355	139316355	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:139316355C>T	ENST00000371717.3	+	12	1344	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	PMPCA_ENST00000399219.3_Silent_p.I314I	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	445					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGCCTGTGATCTTCGAGGATG	0.617000													22	23					0	0	1	0	0
CRTAP	10491	broad.mit.edu	37	3	33156037	33156037	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:33156037C>T	ENST00000320954.6	+	1	567	c.468C>T	c.(466-468)ttC>ttT	p.F156F	CRTAP_ENST00000449224.1_Silent_p.F156F	NM_006371.4	NP_006362.1	O75718	CRTAP_HUMAN	cartilage associated protein	156						proteinaceous extracellular matrix	binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TCGCTTACTTCAAGGCAAGTC	0.741000													11	2					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516238	140516238	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:140516238C>G	ENST00000231134.5	+	1	1439	c.1222C>G	c.(1222-1224)Ctg>Gtg	p.L408V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		408	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGAACACTGGACAGAGA	0.498000													28	91					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26873079	26873079	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:26873079C>G	ENST00000398145.2	-	4	772	c.156G>C	c.(154-156)ttG>ttC	p.L52F	HPS4_ENST00000402105.3_Missense_Mutation_p.L47F|HPS4_ENST00000336873.5_Missense_Mutation_p.L52F|HPS4_ENST00000398141.1_Missense_Mutation_p.L47F	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	52					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GTCCACAAAGCAACTCCTGTT	0.433000									Hermansky-Pudlak syndrome				4	64					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527753	23527753	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:23527753G>A	ENST00000296682.3	+	11	2738	c.2556G>A	c.(2554-2556)agG>agA	p.R852R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	852					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GACACCAGAGGACACACACAG	0.587000										HNSCC(3;0.000094)			87	63					0	0	1	0	0
B3GAT2	135152	broad.mit.edu	37	6	71665784	71665784	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:71665784C>T	ENST00000230053.6	-	1	957	c.349G>A	c.(349-351)Gag>Aag	p.E117K		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)	117					carbohydrate biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCCGCGTCCTCCACCAGGATC	0.726000													5	18					0	0	1	0	0
AMZ2	51321	broad.mit.edu	37	17	66246533	66246533	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:66246533G>A	ENST00000359904.3	+	2	1337	c.205G>A	c.(205-207)Gac>Aac	p.D69N	AMZ2_ENST00000392720.2_Missense_Mutation_p.D69N|AMZ2_ENST00000359783.4_Missense_Mutation_p.D69N|AMZ2_ENST00000577985.1_Missense_Mutation_p.D69N|AMZ2_ENST00000577866.1_Missense_Mutation_p.D69N|AMZ2_ENST00000580753.1_Missense_Mutation_p.D69N|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000577273.1_Missense_Mutation_p.D69N	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	69							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCTCCCCAAGACTTTGAACA	0.453000													23	152					0	0	1	0	0
DUSP6	1848	broad.mit.edu	37	12	89743307	89743307	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:89743307C>G	ENST00000279488.7	-	3	2101	c.870G>C	c.(868-870)ttG>ttC	p.L290F	DUSP6_ENST00000547291.1_Missense_Mutation_p.L165F|DUSP6_ENST00000308385.6_Missense_Mutation_p.L144F|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	290	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						AGCAATGTACCAAGACACCAC	0.468000													23	57					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70815875	70815875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:70815875C>T	ENST00000261776.5	-	8	1103	c.843G>A	c.(841-843)tgG>tgA	p.W281*		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	281					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				ACTCCCGCATCCAGCACATGG	0.617000													11	15					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117351649	117351649	+	Nonsense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:117351649G>C	ENST00000160373.3	-	23	5025	c.4934C>G	c.(4933-4935)tCa>tGa	p.S1645*	CFTR_ENST00000608965.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1645										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CACTTCTTTTGAGTTGTTGTT	0.368000													58	77					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119170312	119170312	+	Missense_Mutation	SNP	G	G	A	rs141710973	byFrequency	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:119170312G>A	ENST00000264033.4	+	16	2918	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	848	Interaction with CD2AP.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.A848T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TGGTCCTGCCGCCTCTGCTGC	0.562000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				9	167					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73068515	73068515	+	RNA	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:73068515G>A	ENST00000429829.1	-	0	4073					NR_001564.2																						ACATCCCACAGAAGGTGGGAT	0.398000													9	22					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84202674	84202674	+	Silent	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:84202674C>G	ENST00000376499.3	-	17	2963	c.1899G>C	c.(1897-1899)acG>acC	p.T633T		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	633					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	p.T633T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCAAACCACCCGTCCAGAGCT	0.547000													31	31					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315181	12315181	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:12315181G>A	ENST00000256186.2	+	3	494	c.203G>A	c.(202-204)cGa>cAa	p.R68Q		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	68	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTTCGGAGGCGAGCCGTAGCC	0.562000													49	107					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67119539	67119539	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:67119539T>C	ENST00000284425.2	-	10	1451	c.1277A>G	c.(1276-1278)gAg>gGg	p.E426G		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	426					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAATGGCGCTCATCTCCATC	0.363000													8	35					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64603002	64603002	+	Missense_Mutation	SNP	C	C	T	rs147422193		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:64603002C>T	ENST00000342711.5	-	15	1849	c.1850G>A	c.(1849-1851)cGa>cAa	p.R617Q		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	617					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CAGCTGCTCTCGCAGGGCGGC	0.697000													42	27					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121943331	121943331	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:121943331A>T	ENST00000442488.2	-	2	903	c.836T>A	c.(835-837)aTg>aAg	p.M279K	FEZF1_ENST00000331178.4_Missense_Mutation_p.M275K|FEZF1_ENST00000427185.2_Missense_Mutation_p.M229K	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	279					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GTGCACTGGCATGTGACGGGT	0.478000													6	122					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74021918	74021918	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:74021918T>C	ENST00000296805.3	-	18	2217	c.1760A>G	c.(1759-1761)cAt>cGt	p.H587R	GFM2_ENST00000345239.2_Missense_Mutation_p.H540R|GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Missense_Mutation_p.H587R	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	587					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		AGTCACAAGATGCCTTTTGTC	0.373000													37	45					0	0	1	0	0
S100A13	6284	broad.mit.edu	37	1	153598947	153598947	+	Translation_Start_Site	SNP	A	A	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:153598947A>C	ENST00000368699.1	-	4	505	c.2T>G	c.(1-3)aTg>aGg	p.M1R	S100A13_ENST00000339556.4_Start_Codon_SNP_p.M1R|S100A13_ENST00000491177.1_5'UTR|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000392622.1_Start_Codon_SNP_p.M1R|S100A13_ENST00000392623.1_Start_Codon_SNP_p.M1R|S100A13_ENST00000440685.2_Start_Codon_SNP_p.M1R	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	1					interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TTCTGCTGCCATTAGGACCCT	0.572000													19	76					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124389365	124389365	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:124389365C>T	ENST00000338354.3	+	44	5397	c.5291C>T	c.(5290-5292)tCa>tTa	p.S1764L	DMBT1_ENST00000330163.4_Missense_Mutation_p.S1136L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1754L|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1136L|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1754L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1764L|DMBT1_ENST00000359586.6_Missense_Mutation_p.S484L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1764					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACCCTCTTCAAATTGTGGT	0.448000													23	141					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75516177	75516177	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:75516177C>T	ENST00000297785.3	-	13	1507	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	485					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TCTGTATATTCATGGAAACCG	0.383000													43	68					0	0	1	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286372	11286372	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:11286372A>G	ENST00000539585.1	-	1	871	c.472T>C	c.(472-474)Tat>Cat	p.Y158H	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TTTCCTTCATATTCTTTTGTC	0.388000													37	138					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129784913	129784913	+	Splice_Site	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:129784913T>C	ENST00000358825.5	-	18	2770	c.2539A>G	c.(2539-2541)Acc>Gcc	p.T847A	PRDM10_ENST00000304538.6_Splice_Site_p.T757A|PRDM10_ENST00000360871.3_Splice_Site_p.T843A|PRDM10_ENST00000423662.2_Splice_Site_p.T761A|PRDM10_ENST00000526082.1_Splice_Site_p.T761A|PRDM10_ENST00000528746.1_Splice_Site_p.T817A	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACCATCTTGGTCTGAAAAAGC	0.413000													21	29					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47359965	47359965	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr21:47359965C>T	ENST00000400314.1	+	15	1269	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	PCBP3_ENST00000400308.1_Missense_Mutation_p.R285C|PCBP3_ENST00000400310.1_Missense_Mutation_p.R291C|PCBP3_ENST00000449640.1_Missense_Mutation_p.R311C|PCBP3_ENST00000400309.1_Missense_Mutation_p.R310C|PCBP3_ENST00000400304.1_Missense_Mutation_p.R301C			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	311	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CATAATTGGACGCCAAGGGAC	0.537000													43	162					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126202703	126202703	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:126202703A>G	ENST00000373624.2	-	19	1625	c.1424T>C	c.(1423-1425)cTg>cCg	p.L475P	DENND1A_ENST00000542603.1_Missense_Mutation_p.L217P|DENND1A_ENST00000373618.1_Missense_Mutation_p.L443P|DENND1A_ENST00000394219.3_Missense_Mutation_p.L443P|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Missense_Mutation_p.L445P|DENND1A_ENST00000373620.3_Missense_Mutation_p.L475P	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	475						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGCCTCCACCAGTGGGGACGG	0.597000													14	27					0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10485673	10485673	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr18:10485673C>A	ENST00000355285.5	+	4	1343	c.989C>A	c.(988-990)tCa>tAa	p.S330*	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1						hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TACCACTACTCAGACCCGGTG	0.632000													4	32					1.23904e-05	1.26884e-05	1	1	0
CFHR4	10877	broad.mit.edu	37	1	196874354	196874354	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:196874354G>A	ENST00000367416.2	+	3	507	c.370G>A	c.(370-372)Gag>Aag	p.E124K	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.2_Intron|CFHR4_ENST00000608469.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TGCAACAGCAGAGGGAAATTC	0.308000													11	149					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24567000	24567000	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:24567000C>G	ENST00000319715.4	+	5	845	c.413C>G	c.(412-414)tCt>tGt	p.S138C	RBBP6_ENST00000381039.3_Missense_Mutation_p.S138C|RBBP6_ENST00000348022.2_Missense_Mutation_p.S138C	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	138					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATGTCGCAATCTGGCCATGAA	0.363000													31	78					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144874978	144874978	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:144874978C>T	ENST00000356994.2	-	30	4083	c.4077G>A	c.(4075-4077)aaG>aaA	p.K1359K	SCRIB_ENST00000320476.3_Silent_p.K1359K|SCRIB_ENST00000377533.3_Silent_p.K1278K|SCRIB_ENST00000546337.1_5'UTR	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1359					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTCAAAGTACTTCTGCCGCT	0.692000													21	3					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26484818	26484818	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:26484818C>T	ENST00000295589.3	-	4	908	c.714G>A	c.(712-714)caG>caA	p.Q238Q		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	238					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ATTTTATTCCCTGGTAGAGTT	0.378000													5	147					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91465168	91465168	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:91465168T>G	ENST00000416354.1	+	2	189	c.117T>G	c.(115-117)caT>caG	p.H39Q	KIF20B_ENST00000260753.4_Missense_Mutation_p.H39Q|KIF20B_ENST00000371728.3_Missense_Mutation_p.H39Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.H39Q			Q96Q89	KI20B_HUMAN	kinesin family member 20B	39					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATCTGTCTCATGAATTTTCCT	0.398000													5	70					0	0	1	0	0
ACBD6	84320	broad.mit.edu	37	1	180471336	180471336	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:180471336C>T	ENST00000367595.3	-	1	753	c.66G>A	c.(64-66)ggG>ggA	p.G22G		NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	22						cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						CGGAGTCGTCCCCTGAGCTCA	0.657000													31	13					0	0	1	0	0
MRPS14	63931	broad.mit.edu	37	1	174983887	174983887	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:174983887C>T	ENST00000476371.1	-	3	321	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	102					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CCTCCAGCGCCGCTTCACACC	0.532000													38	81					0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	45076537	45076537	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr21:45076537C>A	ENST00000291560.2	-	3	449	c.118G>T	c.(118-120)Gac>Tac	p.D40Y	HSF2BP_ENST00000542962.1_Intron	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	40					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GGTAAGAAGTCCCGTATTTGC	0.408000													18	108					5.03518e-11	5.26838e-11	1	1	0
CCR10	2826	broad.mit.edu	37	17	40831650	40831650	+	Missense_Mutation	SNP	C	C	T	rs113100096		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:40831650C>T	ENST00000591765.1	-	2	1729	c.344G>A	c.(343-345)cGc>cAc	p.R115H	CCR10_ENST00000332438.4_Missense_Mutation_p.R337H			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	337						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		gcagccgcggcggggTTGAGG	0.692000													12	17					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:45867687T>C	ENST00000391945.4	-	8	790	c.713A>G	c.(712-714)aAc>aGc	p.N238S	ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.N238S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				13	19					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142119361	142119361	+	Missense_Mutation	SNP	A	A	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:142119361A>C	ENST00000264951.4	-	19	2249	c.2132T>G	c.(2131-2133)cTt>cGt	p.L711R	XRN1_ENST00000392981.2_Missense_Mutation_p.L711R	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	711					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGATTTTCCAAGCACTGATGA	0.343000													27	43					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42680112	42680112	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:42680112C>T	ENST00000358131.5	+	4	813	c.605C>T	c.(604-606)cCg>cTg	p.P202L	TOX2_ENST00000372999.1_Missense_Mutation_p.P151L|TOX2_ENST00000341197.4_Missense_Mutation_p.P193L|TOX2_ENST00000423191.2_Missense_Mutation_p.P151L|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCCATCACCGCCGGGGAGC	0.637000													13	24					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13754678	13754678	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:13754678G>A	ENST00000340096.6	+	3	520	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	OFD1_ENST00000398395.3_Missense_Mutation_p.E65K|OFD1_ENST00000380567.1_5'UTR|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.E65K	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	65					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CATTTCAGTAGAAGGGAGCTC	0.413000													104	109					0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30349824	30349824	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:30349824C>T	ENST00000327564.7	+	1	1801	c.1740C>T	c.(1738-1740)taC>taT	p.Y580Y	LRRC37B_ENST00000543378.2_Silent_p.Y471Y|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000341671.7_Silent_p.Y553Y|LRRC37B_ENST00000394713.3_Silent_p.Y553Y|LRRC37B_ENST00000584368.1_Silent_p.Y565Y			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	553						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CCGACACCTACAATGGCATCT	0.547000													33	174					0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74042184	74042184	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:74042184C>T	ENST00000307877.2	-	11	1395	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	SRP68_ENST00000355113.5_Missense_Mutation_p.E311K|SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000539137.1_Missense_Mutation_p.E374K|SRP68_ENST00000602720.1_Missense_Mutation_p.E73K	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	412					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CTGTCATCCTCTGGCTGCTGC	0.562000													166	54					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130899786	130899786	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:130899786C>T	ENST00000392984.3	-	2	1513	c.770G>A	c.(769-771)gGt>gAt	p.G257D	CCDC74B_ENST00000310463.6_Missense_Mutation_p.G155D|CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409943.3_Intron			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	155										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GTCGGCGCTACCGCCCGCAAG	0.632000													8	11					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42223379	42223379	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:42223379A>G	ENST00000373030.3	+	2	171	c.41A>G	c.(40-42)tAc>tGc	p.Y14C	IFT52_ENST00000373039.4_Missense_Mutation_p.Y14C	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	14						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	p.Y14C(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTCAATGCCTACAAAAAGGAG	0.383000													28	36					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44187338	44187338	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:44187338G>A	ENST00000403799.3	-	7	1243	c.774C>T	c.(772-774)ggC>ggT	p.G258G	GCK_ENST00000437084.1_Silent_p.G241G|GCK_ENST00000345378.2_Silent_p.G259G|GCK_ENST00000395796.3_Silent_p.G257G	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	258					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCCCGAAGGCGCCCCACTCGG	0.642000													5	90					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140917592	140917592	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:140917592C>T	ENST00000371372.1	+	19	2542	c.2397C>T	c.(2395-2397)ttC>ttT	p.F799F	CACNA1B_ENST00000277551.2_Silent_p.F799F|CACNA1B_ENST00000371363.1_Silent_p.F799F|CACNA1B_ENST00000371355.4_Silent_p.F800F|CACNA1B_ENST00000371357.1_Silent_p.F800F|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	799					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCTGCGCTTCGCCACTACGC	0.741000													7	5					0	0	1	0	0
RAET1E	135250	broad.mit.edu	37	6	150211199	150211199	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:150211199C>T	ENST00000532335.1	-	3	514	c.168G>A	c.(166-168)ttG>ttA	p.L56L	RAET1E_ENST00000367363.3_Intron|RAET1E_ENST00000529948.1_Silent_p.L56L|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000357183.4_Silent_p.L56L|RAET1E-AS1_ENST00000605899.1_RNA	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	56	MHC class I alpha-1 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GATTTTTATTCAAGAAGACCT	0.463000													18	37					0	0	1	0	0
ASZ1	136991	broad.mit.edu	37	7	117025789	117025789	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:117025789C>T	ENST00000284629.2	-	5	577	c.515G>A	c.(514-516)gGa>gAa	p.G172E		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	172					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AACTTCTGCTCCATGAGCAAC	0.393000													19	30					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94274785	94274785	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:94274785G>A	ENST00000265986.6	-	5	732	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	226					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTAGTCTCCAGAGTATATTTG	0.338000													38	82					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43026175	43026175	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:43026175G>A	ENST00000161559.6	-	3	738	c.604C>T	c.(604-606)Cta>Tta	p.L202L	CEACAM1_ENST00000599389.1_Silent_p.L202L|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000403461.1_Silent_p.L202L|CEACAM1_ENST00000358394.3_Silent_p.L202L|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403444.3_Silent_p.L202L|CEACAM1_ENST00000352591.5_Silent_p.L202L|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000308072.4_Silent_p.L162L	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	202	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACACTGAGTAGAGTGAGGGTC	0.532000													93	156					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108869869	108869869	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:108869869C>T	ENST00000329106.2	+	3	370	c.370C>T	c.(370-372)Cca>Tca	p.P124S	SULT1C3_ENST00000376700.1_Missense_Mutation_p.P124S	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	124						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ACATCTGATTCCACCATCTAT	0.348000													27	62					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1905267	1905267	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:1905267G>A	ENST00000518288.1	+	30	4108	c.3945G>A	c.(3943-3945)ctG>ctA	p.L1315L	ARHGEF10_ENST00000520359.1_Silent_p.L1253L|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Silent_p.L1291L|ARHGEF10_ENST00000262112.6_Silent_p.L1287L|ARHGEF10_ENST00000398564.1_Silent_p.L1316L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1316					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CTGTCTCGCTGAGAAGCAAAG	0.627000													23	14					0	0	1	0	0
EIF5	1983	broad.mit.edu	37	14	103804671	103804671	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:103804671T>G	ENST00000216554.3	+	7	1123	c.447T>G	c.(445-447)agT>agG	p.S149R	EIF5_ENST00000392715.2_Missense_Mutation_p.S149R|EIF5_ENST00000558506.1_Missense_Mutation_p.S149R	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	149					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TAGAGAATAGTGACAGTGGTA	0.388000													14	33					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133563	177133563	+	Missense_Mutation	SNP	G	G	C	rs141672807		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:177133563G>C	ENST00000367654.3	-	1	461	c.250C>G	c.(250-252)Ctg>Gtg	p.L84V	ASTN1_ENST00000424564.2_Missense_Mutation_p.L84V|ASTN1_ENST00000361833.2_Missense_Mutation_p.L84V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.L84V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTGTTCTCCAGGTCGTCCACC	0.682000													3	31					0	0	1	0	0
UBXN2A	165324	broad.mit.edu	37	2	24207632	24207632	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:24207632C>T	ENST00000309033.4	+	6	759	c.515C>T	c.(514-516)cCc>cTc	p.P172L	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000535786.1_Intron|UBXN2A_ENST00000404924.1_Missense_Mutation_p.P172L	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	172	UBX.									endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AACTTGGAACCCATTACTAAT	0.318000													28	81					0	0	1	0	0
OR3A3	8392	broad.mit.edu	37	17	3324752	3324752	+	Silent	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:3324752T>G	ENST00000291231.1	+	1	891	c.891T>G	c.(889-891)ctT>ctG	p.L297L		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TGAACCCACTTATCTACAGCC	0.498000													44	36					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145324377	145324377	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:145324377C>A	ENST00000342960.5	+	28	3607	c.3572C>A	c.(3571-3573)gCg>gAg	p.A1191E	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	1191										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)		GAGGTAGTAGCGCCTGAAGTC	0.483000													3	16					0.004672	0.00471459	1	1	0
ERBB2	2064	broad.mit.edu	37	17	37881041	37881041	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:37881041G>A	ENST00000406381.2	+	22	2790	c.2280G>A	c.(2278-2280)ctG>ctA	p.L760L	ERBB2_ENST00000445658.2_Silent_p.L514L|ERBB2_ENST00000584601.1_Silent_p.L760L|ERBB2_ENST00000540147.1_Silent_p.L760L|ERBB2_ENST00000269571.5_Silent_p.L790L|ERBB2_ENST00000541774.1_Silent_p.L775L|ERBB2_ENST00000584450.1_Silent_p.L790L	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	790	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCATCTGCCTGACATCCACGG	0.607000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			32	34					0	0	1	0	0
ZNF436-AS1	148898	broad.mit.edu	37	1	23695962	23695962	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:23695962G>A	ENST00000335648.3	+	1	234	c.172G>A	c.(172-174)Gat>Aat	p.D58N	C1orf213_ENST00000437367.2_Missense_Mutation_p.D58N|C1orf213_ENST00000454117.1_Missense_Mutation_p.D58N|C1orf213_ENST00000518821.1_Intron|C1orf213_ENST00000458053.1_Intron																kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CGTTCAGGAAGATTCTAGAGA	0.567000													24	26					0	0	1	0	0
IRAK1	3654	broad.mit.edu	37	X	153284736	153284736	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:153284736C>T	ENST00000369980.3	-	3	515	c.348G>A	c.(346-348)ccG>ccA	p.P116P	IRAK1_ENST00000369974.2_Silent_p.P116P|IRAK1_ENST00000429936.2_Silent_p.P142P|IRAK1_ENST00000393682.1_Silent_p.P142P|IRAK1_ENST00000393687.2_Silent_p.P116P	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	116	ProST region.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|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 transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGGCCTCGGGGCAGTGG	0.721000													9	8					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115372144	115372144	+	Missense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:115372144A>T	ENST00000369358.4	-	30	3615	c.3371T>A	c.(3370-3372)cTg>cAg	p.L1124Q	NRAP_ENST00000369360.3_Missense_Mutation_p.L1089Q|NRAP_ENST00000360478.3_Missense_Mutation_p.L1081Q|NRAP_ENST00000359988.3_Missense_Mutation_p.L1116Q			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1116						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTCCAACGGCAGATGGAACTG	0.522000													28	29					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90428247	90428247	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:90428247C>T	ENST00000369393.3	-	43	6536	c.6421G>A	c.(6421-6423)Gaa>Aaa	p.E2141K	MDN1_ENST00000428876.1_Missense_Mutation_p.E2141K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2141					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCACTACTTCTGCATCATCA	0.468000													23	45					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686553	125686553	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:125686553C>T	ENST00000371126.1	-	1	281	c.39G>A	c.(37-39)gcG>gcA	p.A13A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	13										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGACCGCGGGCGCTTTCCGTT	0.736000													9	50					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6022007	6022007	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:6022007G>A	ENST00000378858.4	-	5	2108	c.1884C>T	c.(1882-1884)gtC>gtT	p.V628V		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	628	Fibronectin type-III.					integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGGCGTAGATGACCCCCACCA	0.701000													18	29					0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395613	160395613	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:160395613C>G	ENST00000320767.2	+	1	666	c.479C>G	c.(478-480)aCa>aGa	p.T160R		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	160					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			TGTGCCCTCACAGGGGAGGGG	0.512000													11	57					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135521905	135521905	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:135521905G>A	ENST00000520727.1	-	16	3712	c.3413C>T	c.(3412-3414)tCg>tTg	p.S1138L	ZFAT_ENST00000377838.3_Missense_Mutation_p.S1150L|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.S1088L|ZFAT_ENST00000520214.1_Missense_Mutation_p.S1138L|ZFAT_ENST00000429442.2_Intron	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGCAACCACCGAGGCAAGGGC	0.577000													61	111					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14291046	14291046	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:14291046G>A	ENST00000344204.4	+	5	786	c.762G>A	c.(760-762)cgG>cgA	p.R254R	TRIO_ENST00000509967.2_Silent_p.R205R|TRIO_ENST00000537187.1_Silent_p.R254R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	254					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGGGGCTCGGAATATGATCG	0.507000													24	63					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030823	79030823	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:79030823G>T	ENST00000446378.2	+	2	6266	c.6235G>T	c.(6235-6237)Gtg>Ttg	p.V2079L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2079						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGCAGAAGGTGTGGAACCTGC	0.458000													29	27					2.65835e-16	2.81876e-16	1	1	0
EFHD1	80303	broad.mit.edu	37	2	233527596	233527596	+	Silent	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:233527596G>T	ENST00000264059.3	+	2	864	c.387G>T	c.(385-387)ctG>ctT	p.L129L	EFHD1_ENST00000409613.1_Silent_p.L33L|EFHD1_ENST00000410095.1_Silent_p.L17L|EFHD1_ENST00000409708.1_Silent_p.L17L	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	129	EF-hand 2.						calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGACCCACCTGGGCCTGAAGA	0.617000													7	4					0.00307968	0.00311343	1	1	0
SDHD	6392	broad.mit.edu	37	11	111958608	111958608	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:111958608G>C	ENST00000375549.3	+	2	215	c.80G>C	c.(79-81)aGa>aCa	p.R27T	SDHD_ENST00000528021.1_Missense_Mutation_p.R27T|SDHD_ENST00000532699.1_Missense_Mutation_p.R27T|SDHD_ENST00000525291.1_Intron|SDHD_ENST00000528182.1_Missense_Mutation_p.R27T|SDHD_ENST00000526592.1_Missense_Mutation_p.R27T|SDHD_ENST00000528048.1_Missense_Mutation_p.R27T	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	27					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)	CCAGTGGTCAGACCTGCTCAT	0.458000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				19	69					0	0	1	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61666829	61666829	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:61666829G>A	ENST00000394836.2	-	9	1180	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	RAB3IL1_ENST00000301773.5_Silent_p.F315F	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	341							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						GGATGTAGGTGAAGAAGTTGC	0.667000											OREG0021017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	13					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65397010	65397010	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:65397010C>T	ENST00000355703.3	+	26	4559	c.4020C>T	c.(4018-4020)ctC>ctT	p.L1340L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1340						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						ACAACAACCTCAACTCCATCT	0.582000													4	18					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116226094	116226094	+	Silent	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:116226094C>A	ENST00000317613.6	+	1	83	c.12C>A	c.(10-12)tcC>tcA	p.S4S	RGS3_ENST00000374140.2_Intron|RGS3_ENST00000350696.5_Intron	NM_017790.3	NP_060260.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGAGCGCTCCCTGCACCGCG	0.697000													9	12					0.00448238	0.00452737	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98582647	98582647	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:98582647G>A	ENST00000359863.4	+	61	9590	c.9381G>A	c.(9379-9381)atG>atA	p.M3127I	TRRAP_ENST00000355540.3_Missense_Mutation_p.M3098I|TRRAP_ENST00000446306.3_Missense_Mutation_p.M3098I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3127	FAT.				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)			TGAAGGGAATGTTCTTGGCTC	0.313000													4	104					0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24205331	24205331	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:24205331C>T	ENST00000378450.3	-	1	200	c.181G>A	c.(181-183)Gat>Aat	p.D61N	DCDC2_ENST00000378454.3_Splice_Site			Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	308	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				ATGCCTTCATCTATTGAGACA	0.413000													34	242					0	0	1	0	0
VEZF1	7716	broad.mit.edu	37	17	56052126	56052126	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:56052126C>T	ENST00000584396.1	-	6	1335	c.1247G>A	c.(1246-1248)aGa>aAa	p.R416K	VEZF1_ENST00000581208.1_Missense_Mutation_p.R425K			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	425	4 X 7 AA repeats of P-[LV]-T-[IL]-T-[ST]- P.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						TACTGGACTTCTCATGCTCAT	0.448000													159	50					0	0	1	0	0
YPEL1	29799	broad.mit.edu	37	22	22057739	22057739	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:22057739C>G	ENST00000339468.3	-	4	573	c.190G>C	c.(190-192)Gag>Cag	p.E64Q		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	64						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					AGGACCCTCTCCTCTGCAGGG	0.687000													43	66					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69340445	69340445	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:69340445C>G	ENST00000305363.4	+	6	559	c.495C>G	c.(493-495)atC>atG	p.I165M		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	165	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTCAGAAATCAACAAGACAG	0.318000													4	306					0	0	1	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595392	129595392	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:129595392G>T	ENST00000373464.4	+	3	868	c.604G>T	c.(604-606)Gag>Tag	p.E202*	ZBTB43_ENST00000373457.1_Nonsense_Mutation_p.E202*|ZBTB43_ENST00000449886.1_Nonsense_Mutation_p.E202*	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CTCGTCCACAGAGCATGACCG	0.592000													21	27					1.10513e-12	1.16181e-12	1	1	0
LENG8	114823	broad.mit.edu	37	19	54963384	54963384	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:54963384G>A	ENST00000326764.5	+	3	632	c.153G>A	c.(151-153)aaG>aaA	p.K51K	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	51							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GCATCAGCAAGTCAGGAGCTG	0.662000													13	46					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11511499	11511499	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:11511499G>A	ENST00000262442.4	+	2	539	c.471G>A	c.(469-471)atG>atA	p.M157I	DNAH9_ENST00000579828.1_Missense_Mutation_p.M157I|DNAH9_ENST00000454412.2_Missense_Mutation_p.M157I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		GGCCCCACATGATATGTGAGG	0.512000													63	140					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123779157	123779157	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:123779157C>G	ENST00000422452.2	-	10	1775	c.1712G>C	c.(1711-1713)gGa>gCa	p.G571A	TENM1_ENST00000371130.3_Missense_Mutation_p.G571A	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTCGTATTCTCCATTCCCACC	0.478000													86	112					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833852	45833852	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr21:45833852C>T	ENST00000397928.1	+	20	3486	c.3041C>T	c.(3040-3042)aCg>aTg	p.T1014M	TRPM2_ENST00000300481.9_Missense_Mutation_p.T994M|TRPM2_ENST00000397932.2_Missense_Mutation_p.T1014M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1014M	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1014						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGCGACGCGACGCAGCAGAGG	0.627000													114	171					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8638559	8638559	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:8638559G>A	ENST00000293845.3	-	6	954	c.728C>T	c.(727-729)gCg>gTg	p.A243V	CCDC42_ENST00000539522.2_Missense_Mutation_p.A169V	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	243								p.A243V(1)		kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CTGGATGTGCGCCCAGCGAGA	0.557000													3	27					0	0	1	0	0
NFE2L1	4779	broad.mit.edu	37	17	46128703	46128703	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:46128703G>A	ENST00000362042.3	+	2	839	c.223G>A	c.(223-225)Gac>Aac	p.D75N	NFE2L1_ENST00000357480.5_Missense_Mutation_p.D75N|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D75N|NFE2L1_ENST00000361665.3_Missense_Mutation_p.D75N	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	75					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATAGACCTGGACAATTACTT	0.562000													79	77					0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49143472	49143472	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:49143472G>A	ENST00000084798.4	-	4	1030	c.351C>T	c.(349-351)gtC>gtT	p.V117V	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	117						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		CAGACACATTGACCACAGGTC	0.627000													27	53					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42170587	42170587	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:42170587C>T	ENST00000320955.6	-	17	3650	c.3423G>A	c.(3421-3423)ctG>ctA	p.L1141L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1141					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)		GGTGCTCCCTCAGCAGCCGCT	0.632000													10	19					0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39521874	39521874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:39521874G>A	ENST00000292853.4	-	3	570	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	FBXO27_ENST00000509137.2_Nonsense_Mutation_p.Q151*|FBXO27_ENST00000600828.1_Nonsense_Mutation_p.Q150*|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	151	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AAGCACGTCTGAGAAGGGGCC	0.557000													29	48					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982413	57982413	+	Missense_Mutation	SNP	C	C	T	rs140365237		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:57982413C>T	ENST00000309433.6	+	1	197	c.197C>T	c.(196-198)aCg>aTg	p.T66M		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T66M(2)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AGCTTGGATACGTACCTTCAT	0.448000													79	83					0	0	1	0	0
STUB1	10273	broad.mit.edu	37	16	731220	731220	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:731220C>T	ENST00000565677.1	+	2	619	c.12C>T	c.(10-12)caC>caT	p.H4H	STUB1_ENST00000219548.4_Silent_p.H76H|STUB1_ENST00000564370.1_Silent_p.H4H			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	76					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				TGCAGCAGCACGAGCAGGCCC	0.667000													6	7					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3753106	3753106	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:3753106C>T	ENST00000378230.3	-	10	1594	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	CEP104_ENST00000460038.1_Intron	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	424						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TCTCTCAAGGCCTTCTCGGTT	0.507000													16	41					0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091006	11091006	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:11091006C>T	ENST00000537503.1	-	1	856	c.801G>A	c.(799-801)gtG>gtA	p.V267V	TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	267					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CCATTCCCATCACCTGGGAAA	0.423000													49	57					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37329987	37329987	+	Silent	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr22:37329987C>T	ENST00000262825.5	+	10	1501	c.1284C>T	c.(1282-1284)aaC>aaT	p.N428N	CSF2RB_ENST00000536485.1_Silent_p.N369N|CSF2RB_ENST00000403662.3_Silent_p.N422N|CSF2RB_ENST00000406230.1_Silent_p.N428N	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	422	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCGGCTACAACGGGATCTGGA	0.652000													4	39					0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45832489	45832489	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:45832489A>G	ENST00000314134.3	+	2	2094	c.698A>G	c.(697-699)tAc>tGc	p.Y233C	SLC35C1_ENST00000442528.2_Missense_Mutation_p.Y220C|SLC35C1_ENST00000456334.1_Missense_Mutation_p.Y220C	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	233						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CTGACTTTCTACAACAACGTC	0.632000													11	26					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141774360	141774360	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:141774360C>T	ENST00000522684.1	-	15	1436	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	PTK2_ENST00000395218.2_Missense_Mutation_p.E403K|PTK2_ENST00000520151.1_Missense_Mutation_p.E31K|PTK2_ENST00000519419.1_Missense_Mutation_p.E447K|PTK2_ENST00000340930.3_Missense_Mutation_p.E403K|PTK2_ENST00000538769.1_Missense_Mutation_p.E64K|PTK2_ENST00000521059.1_Missense_Mutation_p.E403K|PTK2_ENST00000535192.1_Missense_Mutation_p.E403K|PTK2_ENST00000517887.1_Missense_Mutation_p.E447K|PTK2_ENST00000519465.1_Missense_Mutation_p.E31K	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	403					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GTATCTTCTTCATCTATAATC	0.343000													46	228					0	0	1	0	0
HSF2	3298	broad.mit.edu	37	6	122733610	122733610	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:122733610G>A	ENST00000452194.1	+	2	373	c.186G>A	c.(184-186)gtG>gtA	p.V62V	HSF2_ENST00000368455.4_Silent_p.V62V	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	62					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CAAGCTTTGTGAGGCAACTGA	0.388000													32	41					0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4439564	4439564	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:4439564G>A	ENST00000329078.3	+	11	1660	c.1450G>A	c.(1450-1452)Gac>Aac	p.D484N		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	484					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						GCAGATCTCAGACCTGATCCG	0.657000													29	28					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4723511	4723511	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:4723511G>A	ENST00000399577.5	+	10	901	c.808G>A	c.(808-810)Gag>Aag	p.E270K	MGRN1_ENST00000262370.7_Missense_Mutation_p.E270K|MGRN1_ENST00000586183.1_Missense_Mutation_p.E270K|MGRN1_ENST00000588015.1_3'UTR|MGRN1_ENST00000415496.1_Missense_Mutation_p.E271K|MGRN1_ENST00000588994.1_Missense_Mutation_p.E270K	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	270					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTCGGACGACGAGAACAGCGA	0.657000													13	237					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467448	25467448	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:25467448C>A	ENST00000264709.3	-	14	1965	c.1628G>T	c.(1627-1629)gGc>gTc	p.G543V	DNMT3A_ENST00000402667.1_Missense_Mutation_p.G320V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G543V|DNMT3A_ENST00000380746.4_Missense_Mutation_p.G354V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	543	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.G543A(1)|p.G543V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACGGCCCCCACAGCA	0.612000			"""Mis, F, N, S"""		AML								37	29					3.21399e-22	3.43426e-22	1	1	0
SLC35A5	55032	broad.mit.edu	37	3	112289392	112289392	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:112289392C>G	ENST00000492406.1	+	4	518	c.235C>G	c.(235-237)Caa>Gaa	p.Q79E	SLC35A5_ENST00000460713.1_Intron	NM_017945.2	NP_060415.1	Q9BS91	S35A5_HUMAN	solute carrier family 35, member A5	79						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CTAAGATCATCAAAGTAGAAA	0.343000													14	45					0	0	1	0	0
SLC8B1	80024	broad.mit.edu	37	12	113737618	113737618	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:113737618G>A	ENST00000552014.1	-	17	2234	c.1719C>T	c.(1717-1719)ctC>ctT	p.L573L	SLC8B1_ENST00000546737.1_Silent_p.L517L|SLC8B1_ENST00000550047.1_Silent_p.L88L|SLC8B1_ENST00000549069.1_Silent_p.L132L|SLC8B1_ENST00000202831.3_Silent_p.L573L					solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	573																	CAAATTCAGTGAGGAGGGCCA	0.582000													32	40					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233946	21233946	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:21233946G>T	ENST00000233242.1	-	26	5921	c.5794C>A	c.(5794-5796)Ctg>Atg	p.L1932M		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1932					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTTTCAACAGGAATTTGCTA	0.458000													8	258					0.0381472	0.0381817	1	1	0
UBR4	23352	broad.mit.edu	37	1	19447915	19447915	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:19447915G>A	ENST00000375267.2	-	68	9912	c.9909C>T	c.(9907-9909)ttC>ttT	p.F3303F	UBR4_ENST00000375217.2_Silent_p.F3296F|UBR4_ENST00000375254.3_Silent_p.F3303F|UBR4_ENST00000375226.2_Silent_p.F3279F			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3303					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)		CTTGGAGGAGGAAGTACAGGA	0.577000													13	31					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79777364	79777364	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:79777364G>A	ENST00000372371.3	-	10	1537	c.1400C>T	c.(1399-1401)tCg>tTg	p.S467L	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	467					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TTTGTGCAGCGAGGGCTGCCG	0.448000													39	50					0	0	1	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189170	26189170	+	Missense_Mutation	SNP	C	C	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:26189170C>A	ENST00000340756.2	-	1	134	c.135G>T	c.(133-135)aaG>aaT	p.K45N		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	45					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				CAGAAATACGCTTGACGCCGC	0.552000													17	90					4.14922e-12	4.34961e-12	1	1	0
C6orf58	352999	broad.mit.edu	37	6	127911266	127911266	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:127911266G>C	ENST00000329722.7	+	5	721	c.709G>C	c.(709-711)Gag>Cag	p.E237Q		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	237						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AGCGCATTTTGAGAGAAGTTG	0.378000													9	94					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49163823	49163823	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:49163823G>A	ENST00000418109.1	-	17	2290	c.2126C>T	c.(2125-2127)tCt>tTt	p.S709F	LAMB2_ENST00000305544.4_Missense_Mutation_p.S709F	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	709	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCAGGTCCAGAGTAGGGAGT	0.557000													6	34					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27405200	27405200	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:27405200C>G	ENST00000326799.3	-	17	2113	c.1965G>C	c.(1963-1965)atG>atC	p.M655I	YME1L1_ENST00000376016.3_Missense_Mutation_p.M598I|YME1L1_ENST00000375972.3_Missense_Mutation_p.M565I	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	655					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTCTTCCTCCCATACTAACAT	0.383000													29	60					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066216	70066216	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr4:70066216A>G	ENST00000446444.1	-	6	1540	c.1532T>C	c.(1531-1533)tTt>tCt	p.F511S	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	511					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						AAACAGACAAAACTTTGTGAT	0.423000													68	113					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	422683	422683	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr20:422683C>G	ENST00000354200.4	-	4	489	c.342G>C	c.(340-342)atG>atC	p.M114I		NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	114	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GTTCCTCTGGCATGCCTGGGG	0.502000													4	31					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103128689	103128689	+	Missense_Mutation	SNP	G	G	A	rs146351319	by1000genomes	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:103128689G>A	ENST00000295269.4	+	7	1973	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	506					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGCTGGAATCGAAGATGTGTG	0.458000													31	45					0	0	1	0	0
CCND3	896	broad.mit.edu	37	6	41903769	41903769	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:41903769G>C	ENST00000511642.1	-	5	1296	c.545C>G	c.(544-546)tCc>tGc	p.S182C	CCND3_ENST00000372987.4_Missense_Mutation_p.S213C|CCND3_ENST00000414200.2_Missense_Mutation_p.S191C|CCND3_ENST00000510503.1_Silent_p.L136L|CCND3_ENST00000372991.4_Missense_Mutation_p.S263C|CCND3_ENST00000415497.2_Missense_Mutation_p.S67C|CCND3_ENST00000511686.1_5'UTR|CCND3_ENST00000372988.4_Missense_Mutation_p.S182C			P30281	CCND3_HUMAN	cyclin D3	263					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGCTGGGCTGGAGCTGGTCTG	0.637000			T	IGH@	MM								6	9					0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131482297	131482297	+	Splice_Site	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:131482297G>C	ENST00000291906.4	+	20	2769		c.e20+1			NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3						signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						CATTCAGAAGGTAAGCACTGC	0.627000													21	33					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98380259	98380259	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:98380259A>G	ENST00000339364.5	-	12	1910	c.1791T>C	c.(1789-1791)ttT>ttC	p.F597F	PIK3AP1_ENST00000371110.2_Silent_p.F419F|PIK3AP1_ENST00000371109.3_Silent_p.F196F	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	597						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCATTCCCGCAAAAGGGTCAT	0.582000													21	27					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061118	15061118	+	Missense_Mutation	SNP	C	C	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:15061118C>G	ENST00000430939.2	-	9	1521	c.1392G>C	c.(1390-1392)gaG>gaC	p.E464D	SLC1A6_ENST00000600144.1_Missense_Mutation_p.E450D|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E528D			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	528					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CTTCCTGAAGCTCCAGCTCCC	0.612000													9	53					0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53667825	53667825	+	Missense_Mutation	SNP	T	T	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:53667825T>G	ENST00000600412.1	-	2	1838	c.1723A>C	c.(1723-1725)Acc>Ccc	p.T575P	ZNF665_ENST00000396424.3_Missense_Mutation_p.T640P			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GTAGTTAGGGTTGAACGAACA	0.393000													20	88					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82989821	82989821	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:82989821G>A	ENST00000529689.1	-	3	706	c.272C>T	c.(271-273)tCa>tTa	p.S91L	CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000529611.1_5'UTR|CCDC90B_ENST00000455220.2_Missense_Mutation_p.S82L|CCDC90B_ENST00000529073.1_Missense_Mutation_p.S91L			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	91						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				GCTGACATTTGATAAAGCAGT	0.328000													42	37					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	459801	459801	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:459801G>C	ENST00000399788.2	-	10	1656	c.1294C>G	c.(1294-1296)Ctg>Gtg	p.L432V	KDM5A_ENST00000382815.4_Missense_Mutation_p.L432V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	432					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						TCTTCTGGCAGAATCTTTCTC	0.398000			T	NUP98	AML								34	36					0	0	1	0	0
PDGFD	80310	broad.mit.edu	37	11	103870900	103870900	+	Missense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:103870900G>T	ENST00000302251.5	-	2	641	c.190C>A	c.(190-192)Ccg>Acg	p.P64T	PDGFD_ENST00000393158.2_Missense_Mutation_p.P70T	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	70	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TAGCTGTTCGGGAATCTAGGA	0.493000													32	105					1.56442e-22	1.67325e-22	1	1	0
AHR	196	broad.mit.edu	37	7	17370446	17370446	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:17370446C>T	ENST00000242057.4	+	6	1284	c.641C>T	c.(640-642)cCt>cTt	p.P214L		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	214					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GAAAACTCTCCTTTAATGGAG	0.393000													23	47					0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90356126	90356126	+	Splice_Site	SNP	G	G	C	rs55722725		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:90356126G>C	ENST00000406263.1	+	2	673	c.231G>C	c.(229-231)tcG>tcC	p.S77S	CDK14_ENST00000380050.3_Splice_Site_p.S123S|CDK14_ENST00000265741.3_Splice_Site_p.S105S|CDK14_ENST00000436577.2_Splice_Site_p.R26P			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	123					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GCCCCAGCTCGGTAAGTGCAG	0.463000													7	88					0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30032329	30032329	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:30032329C>T	ENST00000328224.6	-	2	3130	c.1897G>A	c.(1897-1899)Ggg>Agg	p.G633R		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	633						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CTGTCATCCCCCTTTCCCTGA	0.478000													5	42					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48647932	48647932	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr8:48647932G>A	ENST00000297423.4	+	20	3052	c.2668G>A	c.(2668-2670)Gta>Ata	p.V890I	SPIDR_ENST00000518060.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.V820I|SPIDR_ENST00000518074.1_Missense_Mutation_p.R830H|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.V365I	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair																		TGTCCAGTCCGTAACCGCCCA	0.527000													76	53					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89880531	89880531	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:89880531A>G	ENST00000534061.1	+	3	458	c.228A>G	c.(226-228)acA>acG	p.T76T	NAALAD2_ENST00000321955.4_Silent_p.T76T|NAALAD2_ENST00000375944.3_Silent_p.T76T|NAALAD2_ENST00000525171.1_Silent_p.T76T	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	76					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGGCAGGAACAGAACAAAATT	0.368000													20	45					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80808944	80808944	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:80808944G>A	ENST00000466387.1	+	18	2731	c.2007G>A	c.(2005-2007)cgG>cgA	p.R669R	CTNNA2_ENST00000343114.3_Splice_Site_p.R348R|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Splice_Site_p.R669R|CTNNA2_ENST00000540488.1_Splice_Site_p.R669R|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000361291.4_Splice_Site_p.R703R|CTNNA2_ENST00000541047.1_Splice_Site_p.R669R|CTNNA2_ENST00000402739.4_Splice_Site_p.R669R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	669					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGAGCGCACGGGTGAGTGGAC	0.493000													18	34					0	0	1	0	0
C11orf84	144097	broad.mit.edu	37	11	63585731	63585731	+	Silent	SNP	C	C	T	rs77073195	by1000genomes	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:63585731C>T	ENST00000294244.4	+	3	800	c.501C>T	c.(499-501)gaC>gaT	p.D167D		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	167	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CCAACCCAGACGCTGCCAGAA	0.617000													14	43					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435660	145435660	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:145435660G>A	ENST00000511217.1	+	7	1491	c.1439G>A	c.(1438-1440)cGt>cAt	p.R480H	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.R480H			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	480							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCAAAGCCGTCCCTTCAAA	0.582000													6	112					0	0	1	0	0
BTG2	7832	broad.mit.edu	37	1	203276489	203276489	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:203276489C>T	ENST00000290551.4	+	2	471	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	134					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CTCCTGTGGGCTCCTCACCTG	0.662000													20	74					0	0	1	0	0
FAM187B	148109	broad.mit.edu	37	19	35715852	35715852	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:35715852G>A	ENST00000324675.3	-	2	1034	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	329						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CTTGAGCACGGAGTCCGCCCT	0.677000													14	17					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114046120	114046120	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:114046120G>A	ENST00000369422.3	+	4	454	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	152	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)		GGGCACATTTGAGAGCCAACT	0.493000													23	31					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60837358	60837358	+	Missense_Mutation	SNP	C	C	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:60837358C>T	ENST00000544856.2	-	5	598	c.220G>A	c.(220-222)Gag>Aag	p.E74K	MARCH10_ENST00000583600.1_Missense_Mutation_p.E74K|MARCH10_ENST00000456609.2_Missense_Mutation_p.E74K|MARCH10_ENST00000311269.5_Missense_Mutation_p.E74K			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	74							ligase activity|zinc ion binding	p.E74K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCATCCTCCTCACTAGAACTC	0.418000													67	32					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42164022	42164022	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:42164022G>A	ENST00000320955.6	-	28	5486	c.5259C>T	c.(5257-5259)gcC>gcT	p.A1753A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1753					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)		CCCCTCCTTTGGCTGCCTGCT	0.667000													4	3					0	0	1	0	0
MIR134	406924	broad.mit.edu	37	14	101521056	101521056	+	RNA	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:101521056G>A	ENST00000385258.2	+	0	49					NR_029698.1																						AGAGGGGCATGCACTGTGTTC	0.597000													5	15					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10944739	10944739	+	Silent	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr21:10944739A>G	ENST00000298232.7	-	10	808	c.441T>C	c.(439-441)atT>atC	p.I147I	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.I165I|TPTE_ENST00000342420.5_Silent_p.I127I	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	165					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAATCACAATAATGGCAGTAT	0.318000													4	191					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67413751	67413751	+	Silent	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:67413751G>T	ENST00000355520.5	-	14	1823	c.1182C>A	c.(1180-1182)atC>atA	p.I394I	OPHN1_ENST00000540071.1_Silent_p.I394I	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	394	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.I394M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAATAATATTGATGCACTTCC	0.408000													15	33					3.41278e-10	3.55739e-10	1	1	0
KCNK18	338567	broad.mit.edu	37	10	118957189	118957189	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:118957189G>T	ENST00000334549.1	+	1	190	c.190G>T	c.(190-192)Gag>Tag	p.E64*		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	64						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GTTCTTGGAGGAGCTCTGCAG	0.582000													13	16					0.0167234	0.0167688	1	1	0
GUCY2F	2986	broad.mit.edu	37	X	108718538	108718538	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:108718538G>A	ENST00000218006.2	-	2	919	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	210					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CCGTGGCTCCGAAGAGCACTT	0.517000											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	75					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102466434	102466434	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:102466434G>T	ENST00000360184.4	+	17	4077	c.3913G>T	c.(3913-3915)Gaa>Taa	p.E1305*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1305	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGAGGCGCTGGAATTGACAGA	0.572000													15	32					1.5739e-10	1.64524e-10	1	1	0
GANC	2595	broad.mit.edu	37	15	42613982	42613982	+	Splice_Site	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:42613982G>A	ENST00000318010.8	+	11	1297		c.e11-1			NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C						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)		CCCTCTTTTAGGCACACAAGC	0.453000													22	19					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100185673	100185673	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:100185673G>A	ENST00000325103.6	-	12	1290	c.1057C>T	c.(1057-1059)Ctg>Ttg	p.L353L	HPS1_ENST00000361490.4_Silent_p.L353L|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	353					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TTGGCATCCAGGAAGATCCTT	0.592000									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	53					0	0	1	0	0
RAMP3	10268	broad.mit.edu	37	7	45217037	45217037	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:45217037T>A	ENST00000242249.4	+	2	226	c.188T>A	c.(187-189)aTc>aAc	p.I63N	RAMP3_ENST00000481345.1_Missense_Mutation_p.I63N|RAMP3_ENST00000496212.1_Missense_Mutation_p.I63N	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	63					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCCGAGTTCATCGTGTGAGTG	0.607000													28	28					0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94714391	94714391	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:94714391A>G	ENST00000371552.4	+	16	1545	c.1516A>G	c.(1516-1518)Aca>Gca	p.T506A	EXOC6_ENST00000443748.2_Missense_Mutation_p.T408A|EXOC6_ENST00000260762.6_Missense_Mutation_p.T511A|EXOC6_ENST00000371547.4_Missense_Mutation_p.T527A	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	511					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTTAGCTCAACAGAAATAGA	0.274000													15	76					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924367	150924367	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:150924367A>T	ENST00000261800.5	-	9	6333	c.6321T>A	c.(6319-6321)taT>taA	p.Y2107*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2107	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCAAATTCATATGTAACAG	0.418000													56	33					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	94559	94559	+	Missense_Mutation	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:94559G>A	ENST00000332708.5	-	2	194	c.164C>T	c.(163-165)tCt>tTt	p.S55F	TUBB8_ENST00000447903.2_Silent_p.I19I|TUBB8_ENST00000309812.4_Silent_p.I91I|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	0					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.I91I(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCTCACCGAAGATGAAGTTGT	0.632000													4	53					0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69353913	69353913	+	Missense_Mutation	SNP	A	A	G			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:69353913A>G	ENST00000342206.6	+	1	615	c.116A>G	c.(115-117)cAg>cGg	p.Q39R	IGBP1_ENST00000356413.4_Missense_Mutation_p.Q39R			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	39					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CGGATAGTCCAGGAGAAGGTG	0.542000											OREG0019849	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	38					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25016780	25016780	+	Missense_Mutation	SNP	T	T	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr13:25016780T>A	ENST00000381989.3	-	29	3596	c.3491A>T	c.(3490-3492)aAa>aTa	p.K1164I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1164					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGAGTTTTCTTTACTGAGTTT	0.289000													13	57					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202880253	202880253	+	Missense_Mutation	SNP	G	G	C			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:202880253G>C	ENST00000367261.3	-	5	864	c.646C>G	c.(646-648)Cct>Gct	p.P216A	KLHL12_ENST00000435533.3_Missense_Mutation_p.P254A	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	216					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGCAGGTTAGGCAAGGATTCT	0.463000													14	236					0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134709061	134709061	+	Silent	SNP	G	G	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chrX:134709061G>A	ENST00000370752.4	+	13	2017	c.1683G>A	c.(1681-1683)ctG>ctA	p.L561L	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	561										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAATATCTGAAGACATTGG	0.408000													33	93					0	0	1	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2491350	2491350	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:2491350delC	ENST00000355716.4	+	4	692	c.393delC	c.(391-393)gacfs	p.D131fs	TNFRSF14_ENST00000409119.1_Frame_Shift_Del_p.D131fs	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	131					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		TCGTCCAGGACGGGGACCACT	0.687			"""Mis, N, F"""		follicular lymphoma								2	4	---	---	---	---					
SMG7	9887	broad.mit.edu	37	1	183506287	183506300	+	Frame_Shift_Del	DEL	CCCTGGTTGATTTC	CCCTGGTTGATTTC	-	rs146096511		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr1:183506287_183506300delCCCTGGTTGATTTC	ENST00000367537.3	+	12	1453_1466	c.1258_1271delCCCTGGTTGATTTC	c.(1258-1272)ccctggttgatttctfs	p.PWLIS420fs	SMG7_ENST00000508461.1_Frame_Shift_Del_p.PWLIS349fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.PWLIS349fs|SMG7_ENST00000347615.2_Frame_Shift_Del_p.PWLIS391fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.PWLIS391fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.PWLIS391fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	391					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CAGCATTTGGCCCTGGTTGATTTCTCTTCTGAAT	0.383													33	26	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65738862	65738863	+	RNA	DEL	TG	TG	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:65738862_65738863delTG	ENST00000377977.3	+	0	862																											TTTTTTTTTTTGTCCAGGAGGC	0.302													3	6	---	---	---	---					
RIF1	55183	broad.mit.edu	37	2	152289711	152289732	+	Frame_Shift_Del	DEL	TTGGACCTCATCTTCCTGCTAA	TTGGACCTCATCTTCCTGCTAA	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr2:152289711_152289732delTTGGACCTCATCTTCCTGCTAA	ENST00000243326.5	+	9	1529_1550	c.1046_1067delTTGGACCTCATCTTCCTGCTAA	c.(1045-1068)cttggacctcatcttcctgctaatfs	p.LGPHLPAN349fs	RIF1_ENST00000428287.2_Frame_Shift_Del_p.LGPHLPAN349fs|RIF1_ENST00000444746.2_Frame_Shift_Del_p.LGPHLPAN349fs|RIF1_ENST00000433166.2_Frame_Shift_Del_p.LGPHLPAN318fs|RIF1_ENST00000430328.2_Frame_Shift_Del_p.LGPHLPAN349fs|RIF1_ENST00000453091.2_Frame_Shift_Del_p.LGPHLPAN349fs			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.P354S(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTGATGAGACTTGGACCTCATCTTCCTGCTAATTTTGAACAG	0.351													8	39	---	---	---	---					
SEC61A1	29927	broad.mit.edu	37	3	127786338	127786338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:127786338delT	ENST00000243253.3	+	10	1234	c.1050delT	c.(1048-1050)tctfs	p.S350fs	SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000464451.1_Frame_Shift_Del_p.S356fs|SEC61A1_ENST00000424880.2_Frame_Shift_Del_p.S230fs|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	350					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTCCAGAATCTTTTGGCTCCG	0.517													10	174	---	---	---	---					
NEK11	79858	broad.mit.edu	37	3	130881261	130881272	+	In_Frame_Del	DEL	GATCCACCTGCA	GATCCACCTGCA	-	rs144840696		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr3:130881261_130881272delGATCCACCTGCA	ENST00000383366.4	+	11	1265_1276	c.972_983delGATCCACCTGCA	c.(970-984)aggatccacctgcag>agg	p.IHLQ325del	NEK11_ENST00000510688.1_In_Frame_Del_p.IHLQ325del|NEK11_ENST00000356918.4_In_Frame_Del_p.IHLQ325del|NEK11_ENST00000511262.1_In_Frame_Del_p.IHLQ325del|NEK11_ENST00000510769.1_In_Frame_Del_p.IHLQ220del|NEK11_ENST00000508196.1_In_Frame_Del_p.IHLQ325del|NEK11_ENST00000507910.1_In_Frame_Del_p.IHLQ325del|NEK11_ENST00000412440.2_In_Frame_Del_p.IHLQ177del|NEK11_ENST00000429253.2_In_Frame_Del_p.IHLQ325del	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	325					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GGCAAAAAAGGATCCACCTGCAGACTCTGAGG	0.425													30	190	---	---	---	---					
CLPTM1L	81037	broad.mit.edu	37	5	1330403	1330418	+	Frame_Shift_Del	DEL	CGGCTCCAACACCCGC	CGGCTCCAACACCCGC	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr5:1330403_1330418delCGGCTCCAACACCCGC	ENST00000320895.5	-	9	1314_1329	c.1057_1072delGCGGGTGTTGGAGCCG	c.(1057-1074)gcgggtgttggagccgccfs	p.AGVGAA353fs	CLPTM1L_ENST00000507807.1_Intron|CLPTM1L_ENST00000320927.6_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	353					apoptosis	integral to membrane		p.G354G(1)|p.A353V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACCTCAATGGCGGCTCCAACACCCGCCGGGACCAGC	0.625													23	121	---	---	---	---					
HIST1H2AH	85235	broad.mit.edu	37	6	27114903	27114911	+	Translation_Start_Site	DEL	CCAGTATGT	CCAGTATGT	-	rs36043209	byFrequency	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:27114903_27114911delCCAGTATGT	ENST00000377459.1	+	0	43_51					NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah						nucleosome assembly	nucleosome|nucleus	DNA binding	p.M1V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						TAAGTTGTGACCAGTATGTCTGGACGTGG	0.541													9	145	---	---	---	---					
FNDC1	84624	broad.mit.edu	37	6	159687205	159687224	+	Frame_Shift_Del	DEL	TATCGAAAGTTCGTGGGAGT	TATCGAAAGTTCGTGGGAGT	-	rs143447403	by1000genomes	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:159687205_159687224delTATCGAAAGTTCGTGGGAGT	ENST00000297267.9	+	21	5574_5593	c.5374_5393delTATCGAAAGTTCGTGGGAGT	c.(5374-5394)tatcgaaagttcgtgggagttfs	p.YRKFVGV1792fs	FNDC1_ENST00000340366.6_Frame_Shift_Del_p.YRKFVGV1729fs	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1792						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCGCACGTGGTATCGAAAGTTCGTGGGAGTTGTTCTTTGT	0.464													8	35	---	---	---	---					
THBS2	7058	broad.mit.edu	37	6	169637778	169637778	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr6:169637778delG	ENST00000366787.3	-	9	1491	c.1242delC	c.(1240-1242)accfs	p.T414fs	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	414	TSP type-1 1.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GCCCCAAGCAGGTGTTGCTGG	0.662													32	15	---	---	---	---					
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs138239781	by1000genomes	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA																							GGTGCGGGCCTCCCCCTTCCCC	0.639													7	3	---	---	---	---					
NCAPG2	54892	broad.mit.edu	37	7	158443566	158443581	+	Frame_Shift_Del	DEL	CAGAGTAGAAAGTACA	CAGAGTAGAAAGTACA	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr7:158443566_158443581delCAGAGTAGAAAGTACA	ENST00000409339.3	-	24	3131_3146	c.3018_3033delTGTACTTTCTACTCTG	c.(3016-3033)ggtgtactttctactctgfs	p.GVLSTL1006fs	NCAPG2_ENST00000449727.2_Frame_Shift_Del_p.GVLSTL1006fs|NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000356309.3_Frame_Shift_Del_p.GVLSTL1006fs|NCAPG2_ENST00000409423.1_Frame_Shift_Del_p.GVLSTL1006fs	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	1006					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCCCAGCGATCAGAGTAGAAAGTACACCCCGGTGCA	0.472													28	79	---	---	---	---					
RRAGA	10670	broad.mit.edu	37	9	19050547	19050555	+	In_Frame_Del	DEL	TTGAGAAGC	TTGAGAAGC	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:19050547_19050555delTTGAGAAGC	ENST00000380527.1	+	1	1176_1184	c.890_898delTTGAGAAGC	c.(889-900)tttgagaagctg>ttg	p.FEK297del		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	297					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CGGAAACACTTTGAGAAGCTGGAGAGAGT	0.469													34	54	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcgfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													4	8	---	---	---	---					
RXRA	6256	broad.mit.edu	37	9	137300873	137300875	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr9:137300873_137300875delACA	ENST00000540193.1	+	3	1150_1152	c.227_229delACA	c.(226-231)gacaac>gac	p.N77del	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_In_Frame_Del_p.N174del			P19793	RXRA_HUMAN	retinoid X receptor, alpha	174	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	ACCTGCCGCGACAACAAGGACTG	0.626													9	105	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13789796	13789796	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:13789796delA	ENST00000357447.2	-	9	856	c.488delT	c.(487-489)ttgfs	p.L163fs	FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.L163fs|FRMD4A_ENST00000342409.2_Frame_Shift_Del_p.L179fs|FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.L148fs|RP11-353M9.1_ENST00000449462.1_RNA	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	163	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CAGCTTCTTCAAGTCACTCCT	0.557													23	38	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	17087018	17087018	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr10:17087018delT	ENST00000377833.4	-	25	3725	c.3660delA	c.(3658-3660)ttafs	p.L1220fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1220	CUB 7.				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)	CCAGGTAATCTAAAGTGCAGT	0.418													47	79	---	---	---	---					
TRMT112	51504	broad.mit.edu	37	11	64084408	64084427	+	Frame_Shift_Del	DEL	CGGGCACTGCAGGGTGCCCT	CGGGCACTGCAGGGTGCCCT	-	rs140861721		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr11:64084408_64084427delCGGGCACTGCAGGGTGCCCT	ENST00000544844.1	-	4	841_860	c.284_303delAGGGCACCCTGCAGTGCCCG	c.(283-303)gagggcaccctgcagtgcccgfs	p.EGTLQCP95fs	TRMT112_ENST00000539854.1_3'UTR|TRMT112_ENST00000535750.1_Frame_Shift_Del_p.EGTLQCP51fs|TRMT112_ENST00000535126.1_3'UTR|TRMT112_ENST00000308774.2_Frame_Shift_Del_p.EGTLQCP90fs			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	95	TRM112.				peptidyl-glutamine methylation	protein complex	protein binding|protein methyltransferase activity			large_intestine(1)|upper_aerodigestive_tract(1)	2						GTCCAGATTCCGGGCACTGCAGGGTGCCCTCTATCACTTC	0.609													10	37	---	---	---	---					
KDM5A	5927	broad.mit.edu	37	12	394776	394777	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:394776_394777insA	ENST00000399788.2	-	28	5280_5281	c.4918_4919insT	c.(4918-4920)tgtfs	p.C1640fs	KDM5A_ENST00000540838.1_5'UTR	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1640	Interaction with LMO2.				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						TACACCCACACAAACTTGATGA	0.446			T	NUP98	AML								53	65	---	---	---	---					
SCAF11	9169	broad.mit.edu	37	12	46320707	46320708	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:46320707_46320708delTC	ENST00000465950.1	-	1	3040_3041	c.1831_1832delGA	c.(1831-1833)gaafs	p.E611fs	SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	926					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						GGTTCTCCTTTCTCTCTCTCTC	0.446													7	183	---	---	---	---					
ATP2B1	490	broad.mit.edu	37	12	89997548	89997578	+	Frame_Shift_Del	DEL	TTCATCATTGTACGTGAGATGAGAGGCTTAT	TTCATCATTGTACGTGAGATGAGAGGCTTAT	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr12:89997548_89997578delTTCATCATTGTACGTGAGATGAGAGGCTTAT	ENST00000428670.3	-	17	3215_3245	c.2759_2789delATAAGCCTCTCATCTCACGTACAATGATGAA	c.(2758-2790)aataagcctctcatctcacgtacaatgatgaagfs	p.NKPLISRTMMK920fs	ATP2B1_ENST00000261173.2_Frame_Shift_Del_p.NKPLISRTMMK920fs|ATP2B1_ENST00000393164.2_Frame_Shift_Del_p.NKPLISRTMMK663fs|ATP2B1_ENST00000348959.3_Frame_Shift_Del_p.NKPLISRTMMK920fs|ATP2B1_ENST00000359142.3_Frame_Shift_Del_p.NKPLISRTMMK920fs			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	920					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.M928I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CAAAATATTCTTCATCATTGTACGTGAGATGAGAGGCTTATTTCTACCATA	0.407													12	71	---	---	---	---					
IGHG2	3501	broad.mit.edu	37	14	106110398	106110414	+	RNA	DEL	GGCTTACCTGGGCACGG	GGCTTACCTGGGCACGG	-	rs112514605	by1000genomes	TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr14:106110398_106110414delGGCTTACCTGGGCACGG	ENST00000390545.2	-	0	321_331																											GGCCTGGGCTGGCTTACCTGGGCACGGTGGGCACTCG	0.608													21	95	---	---	---	---					
RPUSD2	27079	broad.mit.edu	37	15	40861601	40861602	+	In_Frame_Ins	INS	-	-	TAGCTT	rs141675876		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:40861601_40861602insTAGCTT	ENST00000315616.7	+	1	103_104	c.65_66insTAGCTT	c.(64-69)cctagc>ccTAGCTTtagc	p.23_24insFS	RPUSD2_ENST00000559271.1_In_Frame_Ins_p.23_24insFS	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	23					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		CTTAGGCGCCCTAGCTTTACCA	0.614													16	33	---	---	---	---					
MYO1E	4643	broad.mit.edu	37	15	59430525	59430527	+	In_Frame_Del	DEL	CCC	CCC	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:59430525_59430527delCCC	ENST00000288235.4	-	27	3519_3521	c.3120_3122delGGG	c.(3118-3123)gggggc>ggc	p.1040_1041GG>G		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	1040					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTTGGGTCTGCCCCCTGCTGGGG	0.611											OREG0023155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	64	---	---	---	---					
RP11-182J1.12	0	broad.mit.edu	37	15	85069985	85070000	+	RNA	DEL	TTTATGTAAAATTCTT	TTTATGTAAAATTCTT	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr15:85069985_85070000delTTTATGTAAAATTCTT	ENST00000560239.1	-	0	169																											TATCTTATGGTTTATGTAAAATTCTTAATAAAAGTA	0.338													6	8	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29110406	29110406	+	RNA	DEL	T	T	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:29110406delT	ENST00000564580.1	+	0	1098																											TTAAAAAATCTTTTTTTTTTT	0.299													7	50	---	---	---	---					
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327													8	31	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													2	4	---	---	---	---					
LOC100130950	100130950	broad.mit.edu	37	17	5096766	5096766	+	RNA	DEL	A	A	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:5096766delA	ENST00000571689.1	+	0	60				RP11-333E1.1_ENST00000575601.1_RNA	NR_034082.1																						tcaaaaaaataaaaaaaaaaa	0.507													2	4	---	---	---	---					
SENP3	26168	broad.mit.edu	37	17	7466515	7466515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:7466515delG	ENST00000321337.7	+	2	442	c.122delG	c.(121-123)cgafs	p.R41fs	SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Frame_Shift_Del_p.R41fs	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	41	Pro-rich.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				CCCAAACCCCGACTCAAGTCA	0.657													2	4	---	---	---	---					
KRT13	3860	broad.mit.edu	37	17	39661400	39661401	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr17:39661400_39661401insCA	ENST00000246635.3	-	1	448_449	c.402_403insTG	c.(400-405)gtgaagfs	p.K135fs	KRT13_ENST00000336861.3_Frame_Shift_Ins_p.K135fs|KRT13_ENST00000587544.1_Frame_Shift_Ins_p.K135fs	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	135	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCACGGATCTTCACCTCCAGGT	0.604													11	99	---	---	---	---					
CACNA1A	773	broad.mit.edu	37	19	13470426	13470428	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:13470426_13470428delGAG	ENST00000360228.5	-	6	969_971	c.970_972delCTC	c.(970-972)ctcdel	p.L324del	CACNA1A_ENST00000573710.2_In_Frame_Del_p.L324del	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	324					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTACATTGTAGAGGAGATCAGTC	0.537													8	14	---	---	---	---					
ZNF254	9534	broad.mit.edu	37	19	24310446	24310458	+	Frame_Shift_Del	DEL	TGAAAAATGTGGC	TGAAAAATGTGGC	-	rs147017191		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:24310446_24310458delTGAAAAATGTGGC	ENST00000357002.4	+	4	1759_1771	c.1644_1656delTGAAAAATGTGGC	c.(1642-1656)tgtgaaaaatgtggcfs	p.CEKCG548fs	ZNF254_ENST00000342944.6_Frame_Shift_Del_p.CEKCG463fs	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	548					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)				CCTACAAATGTGAAAAATGTGGCAAAGCCTTTA	0.362													17	43	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	39002907	39002908	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:39002907_39002908delGA	ENST00000355481.4	+	63	9387_9388	c.9256_9257delGA	c.(9256-9258)gagfs	p.E3086fs	RYR1_ENST00000359596.3_Frame_Shift_Del_p.E3086fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.E3086fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3086					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCAGGCCCTGAGATCGTGAAG	0.624													30	30	---	---	---	---					
ZNF543	125919	broad.mit.edu	37	19	57839583	57839594	+	In_Frame_Del	DEL	GGAGAAGCCCTA	GGAGAAGCCCTA	-	rs138937209		TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr19:57839583_57839594delGGAGAAGCCCTA	ENST00000321545.4	+	4	1098_1109	c.753_764delGGAGAAGCCCTA	c.(751-765)ggggagaagccctat>ggt	p.EKPY252del		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y255C(1)		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)		TCCACACTGGGGAGAAGCCCTATAAGTGCATG	0.495													23	48	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11047422	11047422	+	RNA	DEL	C	C	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr21:11047422delC	ENST00000470054.1	-	0	774									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAATAGATATCCGATTTGTCT	0.308													8	78	---	---	---	---					
SYNJ1	8867	broad.mit.edu	37	21	34099111	34099125	+	In_Frame_Del	DEL	CATGAGACATTCTTC	CATGAGACATTCTTC	-			TCGA-KQ-A41R-01A-21D-A34U-08	TCGA-KQ-A41R-10G-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aeeaa95b-141f-498a-8f61-11293d9fb4fa	f962ffcd-4a7a-42a8-b9c0-dc3c38e4a2e4	g.chr21:34099111_34099125delCATGAGACATTCTTC	ENST00000382499.2	-	2	198_212	c.199_213delGAAGAATGTCTCATG	c.(199-213)gaagaatgtctcatgdel	p.EECLM67del	SYNJ1_ENST00000433931.2_In_Frame_Del_p.EECLM67del|SYNJ1_ENST00000322229.7_In_Frame_Del_p.EECLM28del|SYNJ1_ENST00000357345.3_In_Frame_Del_p.EECLM28del|SYNJ1_ENST00000382491.3_In_Frame_Del_p.EECLM28del	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	28							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						CAGACTCGAACATGAGACATTCTTCCTTATGCCTA	0.447													22	68	---	---	---	---