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
COL8A2	1296	broad.mit.edu	37	1	36564106	36564106	+	Silent	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:36564106A>G	uc001bzv.2	-	1	1183	c.1176T>C	c.(1174-1176)atT>atC	p.I392I	COL8A2_uc001bzw.2_Silent_p.I327I	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	392	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTCACCTCGAATGCCAGGCA	0.692000													22	52					0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70301662	70301662	+	Silent	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr16:70301662G>A	uc002eyn.1	-	8	1232	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	AARS_uc010vlu.1_Silent_p.I204I	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	374					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CTTCATTAATGATGTCCTTCA	0.517000											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	78					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601745	13601745	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr4:13601745G>A	uc003gmz.1	-	9	6896	c.6779C>T	c.(6778-6780)tCg>tTg	p.S2260L	BOD1L1_uc010idr.1_Missense_Mutation_p.S1597L	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2260							DNA binding										GTCTTCCACCGAGCTCGTAGA	0.542000													15	109					0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296801	154296801	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:154296801G>T	uc001feu.3	+	5	791	c.751G>T	c.(751-753)Gtg>Ttg	p.V251L	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	251					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCCCCTCTGGTGGGGGCCAC	0.602000											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	17					2.32078e-09	2.54427e-09	1	1	0
MR1	3140	broad.mit.edu	37	1	181003148	181003148	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:181003148G>T	uc001goq.2	+	1	166	c.5G>T	c.(4-6)gGg>gTg	p.G2V	MR1_uc001gor.2_Missense_Mutation_p.G2V|MR1_uc001gos.2_Missense_Mutation_p.G2V|MR1_uc010pns.2_Missense_Mutation_p.G2V|MR1_uc001gop.3_Missense_Mutation_p.G2V	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	2					antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						AGGACTATGGGGGAACTGATG	0.483000													38	80					5.20006e-24	6.20652e-24	1	1	0
WDR87	83889	broad.mit.edu	37	19	38385244	38385244	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr19:38385244G>T	uc002ohj.2	-	3	1324	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	WDR87_uc010efu.2_Missense_Mutation_p.Q328K	NM_031951	NP_114157	Q6ZQQ6	WDR87_HUMAN	Homo sapiens WD repeat domain 87 (WDR87), mRNA.	328										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CGACGCAACTGCTGGGGAGCA	0.532000													20	195					9.57634e-11	1.05769e-10	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123185457	123185457	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr4:123185457G>A	uc003ieh.3	+	42	7237	c.7192G>A	c.(7192-7194)Gtc>Atc	p.V2398I	KIAA1109_uc003iel.1_Missense_Mutation_p.V333I|KIAA1109_uc003iek.2_Missense_Mutation_p.V1017I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2398					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTCAACACTGTCTTGTCTAG	0.403000													5	75					0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103501735	103501735	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr4:103501735G>T	uc011ceq.2	+	8	1238	c.771G>T	c.(769-771)agG>agT	p.R257S	NFKB1_uc011cep.2_Missense_Mutation_p.R258S|NFKB1_uc011cer.2_Missense_Mutation_p.R77S	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	257	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GAATGGACAGGACAGCTGGAT	0.413000													4	89					2.7689e-08	3.01321e-08	1	1	0
PLTP	5360	broad.mit.edu	37	20	44539886	44539886	+	Silent	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr20:44539886C>T	uc002xqm.2	-	1	700	c.165G>A	c.(163-165)aaG>aaA	p.K55K	PLTP_uc002xql.2_5'Flank|PLTP_uc010zxj.2_Silent_p.K35K|PLTP_uc002xqq.2_Intron|PLTP_uc002xqn.2_Silent_p.K35K|PLTP_uc002xqo.2_Silent_p.K35K	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	35					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCCCCTCCTGCTTCACTGAAG	0.602000													25	48					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52416419	52416419	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:52416419T>C	uc011bef.2	+	49	8150	c.7889T>C	c.(7888-7890)cTc>cCc	p.L2630P	DNAH1_uc003ddv.3_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2630	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AAGGTCCTGCTCAAGGCGGGC	0.582000													42	69					0	0	1	0	0
NKX6-3	157848	broad.mit.edu	37	8	41504065	41504065	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr8:41504065G>T	uc010lxa.1	-	2	334	c.311C>A	c.(310-312)cCg>cAg	p.P104Q	NKX6-3_uc003xoa.2_Missense_Mutation_p.P104Q	NM_152568	NP_689781	A6NJ46	NKX63_HUMAN	Homo sapiens NK6 homeobox 3 (NKX6-3), mRNA.	234						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1	Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGGTCCAGCGGCTTGTTGTA	0.731000													7	5					3.27435e-08	3.51162e-08	1	1	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057901	46057901	+	Silent	SNP	C	C	T	rs149080473		TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr21:46057901C>T	uc002zfq.3	+	0	629	c.567C>T	c.(565-567)tcC>tcT	p.S189S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	189	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CCTCCTCCTCCGTGTCCCTCC	0.667000													24	32					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15889252	15889252	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr21:15889252T>A	uc002yju.1	-	2	322	c.240A>T	c.(238-240)aaA>aaT	p.K80N	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.K148N	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	80					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTTACCCACTTTTTTCTTCA	0.328000													14	22					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172930452	172930452	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:172930452A>G	uc002uhk.3	+	3	542	c.469A>G	c.(469-471)Aac>Gac	p.N157D	METAP1D_uc010zdw.2_Missense_Mutation_p.N39D	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA.	157					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CTCTGTAAACAACGTGCTCTG	0.383000													43	89					0	0	1	0	0
GPBP1L1	60313	broad.mit.edu	37	1	46124748	46124748	+	Silent	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:46124748A>G	uc001coq.3	-	3	1373	c.12T>C	c.(10-12)caT>caC	p.H4H		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					GAACAAAATCATGCTGCGCCA	0.428000													10	59					0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677510	62677510	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:62677510A>T	uc021qko.1	-	0	1063	c.1063T>A	c.(1063-1065)Ttc>Atc	p.F355I	CHRM1_uc001nwi.3_Missense_Mutation_p.F355I	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	355					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	ACCAGCGAGAAGGTCTTCCGC	0.592000													21	30					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116423474	116423474	+	Missense_Mutation	SNP	T	T	C	rs121913245		TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr7:116423474T>C	uc003vij.3	+	18	3936	c.3749T>C	c.(3748-3750)aTg>aCg	p.M1250T	MET_uc010lkh.3_Missense_Mutation_p.M1268T|MET_uc011knj.2_Missense_Mutation_p.M820T	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1250	Interaction with RANBP9.|Protein kinase.		M -> I (in HCC).|M -> T (in RCCP; somatic mutation).		axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.M1268T(4)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTGAAGTGGATGGCTTTGGAA	0.393000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				19	38					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86900438	86900438	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr9:86900438A>T	uc010mpz.3	-	13	1615	c.1469T>A	c.(1468-1470)tTc>tAc	p.F490Y	SLC28A3_uc011lsy.2_Missense_Mutation_p.F421Y|SLC28A3_uc004anu.2_Missense_Mutation_p.F490Y	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	490					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						AAAGGGCATGAAGATGTAGGA	0.413000													47	84					0	0	1	0	0
FAM186A	121006	broad.mit.edu	37	12	50745132	50745132	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr12:50745132G>T	uc001rwl.2	-	3	5621	c.5483C>A	c.(5482-5484)tCt>tAt	p.S1828Y	FAM186A_uc010smt.1_Missense_Mutation_p.S1606Y	NM_001145475	NP_001138947	A6NE01	F186A_HUMAN	Homo sapiens family with sequence similarity 186, member A (FAM186A), mRNA.	1828	Pro-rich.																AGGGGCCCGAGATATTGGGAG	0.612000													30	31					1.06801e-11	1.19747e-11	1	1	0
C2orf69	205327	broad.mit.edu	37	2	200789854	200789854	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:200789854G>T	uc010zhb.2	+	1	586	c.403G>T	c.(403-405)Gct>Tct	p.A135S		NM_153689	NP_710156	Q8N8R5	CB069_HUMAN	Homo sapiens chromosome 2 open reading frame 69 (C2orf69), mRNA.	135						extracellular region				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						AGAAAATGTTGCTACCATTTT	0.353000													26	46					7.26314e-15	8.33291e-15	1	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705604	112705604	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr9:112705604A>G	uc004bei.2	+	6	1327	c.1135A>G	c.(1135-1137)Aca>Gca	p.T379A	PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.T347A|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.T379A|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding	p.L378L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTCAGACACCACAGAGCCCTC	0.552000													17	97					0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118151559	118151559	+	Missense_Mutation	SNP	G	G	A	rs143959775		TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chrX:118151559G>A	uc004eqw.3	+	10	2217	c.2186G>A	c.(2185-2187)cGa>cAa	p.R729Q	LONRF3_uc004eqx.3_Missense_Mutation_p.R688Q|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.R473Q	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	729	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TTGGAAAGCCGAGCTCAGCTC	0.502000													3	39					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57467120	57467120	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:57467120G>T	uc003pdx.3	+	11	1145	c.1058G>T	c.(1057-1059)gGa>gTa	p.G353V		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	354					DNA replication, synthesis of RNA primer|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	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CACAGCTTTGGAAAGGAAGGC	0.418000													8	171					2.17888e-05	2.28705e-05	1	1	0
METTL23	124512	broad.mit.edu	37	17	74729098	74729098	+	Silent	SNP	C	C	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr17:74729098C>A	uc021udk.1	+	2	528	c.123C>A	c.(121-123)gcC>gcA	p.A41A	METTL23_uc002jsr.3_Silent_p.A41A|METTL23_uc021udl.1_Silent_p.A41A|METTL23_uc021udm.1_5'UTR|METTL23_uc002jst.3_5'UTR|METTL23_uc021udn.1_5'UTR|METTL23_uc002jsu.3_Intron	NM_001206983	NP_001193912	Q86XA0	MET23_HUMAN	Homo sapiens methyltransferase like 23 (METTL23), transcript variant 2, mRNA.	41						integral to membrane	methyltransferase activity			large_intestine(2)|lung(1)	3						TTTTGGCTGCCAAATGTGGTG	0.438000													13	52					5.50884e-06	5.82363e-06	1	1	0
C17orf104	284071	broad.mit.edu	37	17	42744196	42744196	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr17:42744196A>T	uc002iha.3	+	4	1137	c.917A>T	c.(916-918)cAa>cTa	p.Q306L	C17orf104_uc002igy.1_Missense_Mutation_p.Q140L|C17orf104_uc002igz.3_Missense_Mutation_p.Q140L|C17orf104_uc010wja.1_Non-coding_Transcript	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA.	306										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CCACTACAGCAAAAAAGGGCA	0.348000													11	24					0	0	1	0	0
FNBP1L	54874	broad.mit.edu	37	1	93965136	93965136	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:93965136T>A	uc010otk.2	+	1	287	c.136T>A	c.(136-138)Ttg>Atg	p.L46M	FNBP1L_uc001dpv.3_Missense_Mutation_p.L46M|FNBP1L_uc001dpw.3_Missense_Mutation_p.L46M	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	46	FCH.|Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGCGAAACAATTGAGGTAAGT	0.308000													36	42					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48040950	48040950	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:48040950C>T	uc002rwe.3	-	16	2136	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	FBXO11_uc010fbl.3_Missense_Mutation_p.G604E|FBXO11_uc010fbk.3_Missense_Mutation_p.G112E|FBXO11_uc021vhe.1_Missense_Mutation_p.G488E	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	688					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AACTAGAATTCCACCATTCTG	0.388000			"""Mis, F, D"""		DLBCL								3	32					0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6610594	6610594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:6610594G>A	uc001ans.3	-	1	574	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	NOL9_uc010nzs.2_Non-coding_Transcript	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	160					maturation of 5.8S rRNA	nucleolus	ATP binding|RNA binding|polynucleotide 5'-hydroxyl-kinase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCAGGCTGGCCTTGGCTG	0.473000													3	47					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18390936	18390936	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:18390936T>C	uc003cbh.3	-	10	3753	c.2018A>G	c.(2017-2019)gAg>gGg	p.E673G	SATB1_uc003cbi.3_Missense_Mutation_p.E705G|SATB1_uc003cbj.3_Missense_Mutation_p.E673G	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	673					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	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						CTGGATGGCCTCTTCGTCAGG	0.517000													58	81					0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210006562	210006562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:210006562G>T	uc001hhr.2	+	3	518	c.421G>T	c.(421-423)Gaa>Taa	p.E141*	DIEXF_uc009xcu.2_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.	141	Glu-rich.				multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						TGAGGGAAAAGAAGATGGGGA	0.398000													13	29					2.23348e-06	2.3781e-06	1	1	0
CENPF	1063	broad.mit.edu	37	1	214820696	214820696	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:214820696A>T	uc001hkm.3	+	12	7957	c.7783A>T	c.(7783-7785)Aat>Tat	p.N2595Y		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2691	Sufficient for centromere localization.|Sufficient for self-association.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAATCTAGAGAATGAGCTTGA	0.378000													16	26					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75861881	75861881	+	Silent	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:75861881T>C	uc021zbv.1	-	17	3836	c.3801A>G	c.(3799-3801)gcA>gcG	p.A1267A	COL12A1_uc021zbw.1_Silent_p.A103A|COL12A1_uc003phs.3_Silent_p.A1267A|COL12A1_uc003pht.3_Silent_p.A103A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1267	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACGGCAAGTTTGCCACAGCTT	0.473000													55	96					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166796	151166796	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:151166796C>T	uc011bod.2	-	3	973	c.973G>A	c.(973-975)Gga>Aga	p.G325R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	325					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTTCATTTCCAGACTGATCT	0.433000													40	61					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85409045	85409045	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:85409045A>C	uc010rth.2	-	15	2819	c.2430T>G	c.(2428-2430)agT>agG	p.S810R	SYTL2_uc010rtg.2_Missense_Mutation_p.S811R|SYTL2_uc010rti.2_Missense_Mutation_p.S786R|SYTL2_uc010rtj.2_Missense_Mutation_p.S778R|SYTL2_uc001pav.3_Missense_Mutation_p.S252R|SYTL2_uc010rte.2_Missense_Mutation_p.S212R|SYTL2_uc001pax.3_Missense_Mutation_p.S252R|SYTL2_uc001paz.3_Missense_Mutation_p.S131R|SYTL2_uc001pay.3_Missense_Mutation_p.S241R|SYTL2_uc001paw.3_Missense_Mutation_p.S212R|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Missense_Mutation_p.S1108R|SYTL2_uc001pbb.3_Missense_Mutation_p.S1148R|SYTL2_uc001pbc.3_Missense_Mutation_p.S1132R|SYTL2_uc010rtf.2_Missense_Mutation_p.S628R	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	810	C2 2.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AATTTAGATGACTTCCCCTTA	0.393000													4	32					0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104717538	104717538	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr7:104717538G>C	uc003vcm.3	+	9	1431	c.897G>C	c.(895-897)gaG>gaC	p.E299D	MLL5_uc010lja.1_Missense_Mutation_p.E153D|MLL5_uc010ljb.1_Missense_Mutation_p.E299D|MLL5_uc003vcl.3_Missense_Mutation_p.E299D|MLL5_uc010ljc.3_Missense_Mutation_p.E299D|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	299					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TTCAGAGGGAGGCACAAAGAA	0.393000													16	118					0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118985467	118985467	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chrX:118985467C>G	uc004erz.2	-	2	461	c.361G>C	c.(361-363)Gac>Cac	p.D121H	UPF3B_uc004esa.2_Missense_Mutation_p.D121H	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	121	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CCTTTATTGTCAAGGAATACA	0.363000													89	29					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136555630	136555630	+	Silent	SNP	T	T	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:136555630T>G	uc002tuu.1	-	12	4956	c.4945A>C	c.(4945-4947)Agg>Cgg	p.R1649R		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1649	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCAAGCTCCTGTCACGGATC	0.582000											OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	49					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171700591	171700591	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:171700591G>T	uc002ugi.3	+	6	1097	c.675G>T	c.(673-675)atG>atT	p.M225I		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	225					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTGTCCTCATGGAACAAATAA	0.368000													28	59					6.29468e-14	7.16626e-14	1	1	0
SAMD15	161394	broad.mit.edu	37	14	77846826	77846826	+	Splice_Site	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr14:77846826T>C	uc001xtq.1	+	2	1788	c.1788_splice	c.e2+2	p.K596_splice		NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	596	SAM.									breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACATGAAGGTGAGTTGTGTC	0.463000													3	99					0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24836558	24836558	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr22:24836558G>T	uc002zzx.3	+	4	1103	c.340G>T	c.(340-342)Ggc>Tgc	p.G114C	SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Missense_Mutation_p.G114C|ADORA2A_uc011ajs.2_5'UTR|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guq.3_Missense_Mutation_p.G114C|ADORA2A_uc010gup.3_Missense_Mutation_p.G114C|ADORA2A_uc003aab.3_Missense_Mutation_p.G114C|C22orf45_uc003aad.1_Intron	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	114					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CAGGTACAATGGCTTGGTGAC	0.567000													40	64					7.88023e-25	9.55963e-25	1	1	0
HDAC2	3066	broad.mit.edu	37	6	114264645	114264645	+	Silent	SNP	A	A	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:114264645A>C	uc003pwd.2	-	11	1535	c.1248T>G	c.(1246-1248)gcT>gcG	p.A416A	HDAC2_uc003pwc.2_Silent_p.A386A|HDAC2_uc003pwe.2_Silent_p.A386A	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	416					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CTTCATCACAAGCTATCCGCT	0.363000													7	7					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182763639	182763639	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:182763639G>A	uc002uoi.3	+	4	719	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	SSFA2_uc002uoh.3_Missense_Mutation_p.E133K|SSFA2_uc002uoj.3_Missense_Mutation_p.E133K|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_5'UTR|SSFA2_uc002uol.3_5'UTR	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	133						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGCTCAAATTGAAAACTGGTA	0.284000													3	36					0	0	1	0	0
FAM102A	399665	broad.mit.edu	37	9	130707096	130707096	+	Silent	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr9:130707096G>A	uc004bsx.2	-	8	1395	c.999C>T	c.(997-999)atC>atT	p.I333I	FAM102A_uc004bsw.1_Silent_p.I191I|FAM102A_uc004bsy.1_Silent_p.I61I	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	333										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GGCTCTGCACGATCTTCTCCA	0.672000													15	15					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433329	4433329	+	Silent	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr19:4433329G>A	uc002mal.3	+	12	2566	c.2466G>A	c.(2464-2466)ccG>ccA	p.P822P		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	822	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTGCACCCGCAGGTGCTAC	0.617000								Chromatin Structure					3	50					0	0	1	0	0
CBX6	23466	broad.mit.edu	37	22	39262330	39262330	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr22:39262330T>G	uc003awl.3	-	4	1186	c.1123A>C	c.(1123-1125)Agc>Cgc	p.S375R		NM_014292	NP_055107	O95503	CBX6_HUMAN	Homo sapiens chromobox homolog 6 (CBX6), mRNA.	375					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		p.S375N(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					AGGAGGTTGCTGGTGACATCG	0.657000													21	45					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56400802	56400802	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr18:56400802A>G	uc002lhm.1	+	10	1654	c.1396A>G	c.(1396-1398)Aaa>Gaa	p.K466E	MALT1_uc002lhn.1_Missense_Mutation_p.K455E	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	466	Caspase-like.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TATGTGTAGGAAAAGGTAAGT	0.313000			T	BIRC3	MALT								3	46					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24581493	24581493	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr16:24581493A>T	uc002dmh.3	+	16	4522	c.3482A>T	c.(3481-3483)gAg>gTg	p.E1161V	RBBP6_uc010vcb.1_Missense_Mutation_p.E1028V|RBBP6_uc002dmi.3_Missense_Mutation_p.E1127V|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.E994V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1161					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)		AAAGATTTTGAGTCTTCTTCA	0.348000													32	55					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17087368	17087368	+	Splice_Site	SNP	C	C	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:17087368C>A	uc010ock.2	-	3	216	c.216_splice	c.e3-1	p.W72_splice	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						AGTGGAACGCCCTGGAGAGAA	0.607000													19	210					1.42536e-11	1.58611e-11	1	1	0
TMEM30A	55754	broad.mit.edu	37	6	75977367	75977367	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:75977367T>A	uc003phw.2	-	1	613	c.335A>T	c.(334-336)aAg>aTg	p.K112M	TMEM30A_uc003phx.2_Intron	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA.	112						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCAAATGACTTTTCCAGTGT	0.363000													10	19					0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53440302	53440302	+	Silent	SNP	C	C	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chrX:53440302C>G	uc004dsg.3	-	3	564	c.495G>C	c.(493-495)gcG>gcC	p.A165A	SMC1A_uc011moe.2_Silent_p.A143A|SMC1A_uc011mof.2_Intron	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	165					DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	p.A165A(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CATACTCCTGCGCCAGCTCCC	0.463000													33	8					0	0	1	0	0
C20orf11	54994	broad.mit.edu	37	20	61574952	61574952	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr20:61574952A>G	uc002ydy.3	+	3	598	c.421A>G	c.(421-423)Aca>Gca	p.T141A		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	Homo sapiens chromosome 20 open reading frame 11 (C20orf11), mRNA.	141						nucleus	protein binding			endometrium(1)|kidney(1)|lung(3)|skin(1)|urinary_tract(1)	7	Breast(26;5.68e-08)					AGAGTGCCTCACAGAGATGGA	0.642000													11	160					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69757189	69757189	+	Silent	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:69757189G>A	uc002sfp.2	-	7	1327	c.822C>T	c.(820-822)ttC>ttT	p.F274F	AAK1_uc010fdk.2_Silent_p.F274F|AAK1_uc010yqm.1_Silent_p.F274F	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	274	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CAGGAATTGTGAAGTTTCCAT	0.313000													29	55					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84592737	84592737	+	Missense_Mutation	SNP	G	G	A	rs148020587		TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr15:84592737G>A	uc002bjz.4	+	16	2293	c.2069G>A	c.(2068-2070)cGt>cAt	p.R690H	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R690H	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	690						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)			ATGGTCCACCGTCCTCCAGCC	0.537000													58	121					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74668862	74668862	+	Silent	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:74668862G>T	uc002sle.3	-	0	199	c.82C>A	c.(82-84)Cga>Aga	p.R28R	RTKN_uc002slc.3_5'Flank|RTKN_uc002sld.3_5'Flank|RTKN_uc010ffe.1_Silent_p.R28R|RTKN_uc010fff.1_5'Flank|RTKN_uc010ffg.1_Silent_p.R28R	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.	28					Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGGCTGAGTCGGAAGCGGCCG	0.697000													10	14					6.42651e-13	7.26049e-13	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62211634	62211634	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr15:62211634T>C	uc002agz.3	-	57	7583	c.7492A>G	c.(7492-7494)Aca>Gca	p.T2498A	VPS13C_uc002aha.3_Missense_Mutation_p.T2455A|VPS13C_uc002ahb.2_Missense_Mutation_p.T2498A|VPS13C_uc002ahc.2_Missense_Mutation_p.T2455A|VPS13C_uc002ahd.1_5'Flank	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2498					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAACTTCTGTATATCCATGA	0.378000													36	49					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134063948	134063948	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:134063948C>T	uc001qhd.1	-	14	2393	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	596					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GGCCTGCTTCCGGACAGACAC	0.443000													11	62					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14108836	14108836	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:14108836C>T	uc001avi.3	+	7	5402	c.4546C>T	c.(4546-4548)Cgg>Tgg	p.R1516W	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.R1516W|PRDM2_uc001avk.3_Missense_Mutation_p.R1315W|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1516						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCACCGCAGACGGACAGCGGA	0.512000													30	51					0	0	1	0	0
SPC24	147841	broad.mit.edu	37	19	11259779	11259779	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr19:11259779G>T	uc002mql.2	-	1	328	c.296C>A	c.(295-297)gCc>gAc	p.A99D		NM_182513	NP_872319	Q8NBT2	SPC24_HUMAN	Homo sapiens SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC24), mRNA.	99	Interaction with the N-terminus of SPBC25.				cell division|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						TAGGAGGCTGGCCTTCAGACG	0.592000													4	60					0.150653	0.150653	1	1	0
NUP188	23511	broad.mit.edu	37	9	131749966	131749966	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr9:131749966T>C	uc004bws.1	+	22	2385	c.2363T>C	c.(2362-2364)aTt>aCt	p.I788T	NUP188_uc004bwu.3_Missense_Mutation_p.I131T	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	788					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGGACACCATTGACATGGTG	0.493000													37	80					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234368926	234368926	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:234368926G>T	uc002vui.1	+	23	2928	c.2916G>T	c.(2914-2916)atG>atT	p.M972I	DGKD_uc002vuj.1_Missense_Mutation_p.M928I|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	972					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACCCGGAGATGCTGTCCGAGG	0.617000													114	187					1.5108e-63	1.87898e-63	1	1	0
GRID2	2895	broad.mit.edu	37	4	94138031	94138031	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr4:94138031A>G	uc011cdt.2	+	5	1190	c.932A>G	c.(931-933)gAt>gGt	p.D311G	GRID2_uc010ikx.3_Missense_Mutation_p.D311G|GRID2_uc011cdu.2_Missense_Mutation_p.D216G|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	311					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)	ACATTGTGTGATCCAAAGGAT	0.413000													20	50					0	0	1	0	0
PSPC1	55269	broad.mit.edu	37	13	20277500	20277500	+	Splice_Site	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr13:20277500G>A	uc021rgx.1	-	10	1524	c.1387_splice	c.e10-1	p.H463_splice		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	463	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CTGTCATTGTGCTATGATACC	0.433000													47	480					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37053037	37053037	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr7:37053037C>T	uc022abv.1	-	15	2014	c.1304G>A	c.(1303-1305)aGt>aAt	p.S435N	ELMO1_uc011kbc.2_Missense_Mutation_p.S339N|ELMO1_uc003tfk.2_Missense_Mutation_p.S435N|ELMO1_uc010kxg.2_Missense_Mutation_p.S435N	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	435	ELMO.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.P434S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCAGGTCTCACTAGCTGGAGG	0.458000													23	44					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64847424	64847424	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr5:64847424C>T	uc003jts.3	-	4	420	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	CENPK_uc003jtu.3_Missense_Mutation_p.E70K	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	Homo sapiens centromere protein K (CENPK), mRNA.	70					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		TGACTGAGTTCAGCGGTTAAA	0.259000													3	71					0	0	1	0	0
TAF7	6879	broad.mit.edu	37	5	140699374	140699374	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr5:140699374T>C	uc003ljg.3	-	0	978	c.238A>G	c.(238-240)Att>Gtt	p.I80V		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	80					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTTATCAATGGTTTTCAAG	0.443000													28	50					0	0	1	0	0
RBP7	116362	broad.mit.edu	37	1	10068242	10068242	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:10068242C>G	uc001aqq.3	+	2	326	c.264C>G	c.(262-264)atC>atG	p.I88M	RBP7_uc009vms.3_Non-coding_Transcript	NM_052960	NP_443192	Q96R05	RET7_HUMAN	Homo sapiens retinol binding protein 7, cellular (RBP7), mRNA.	88						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(1)	2		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|BRCA - Breast invasive adenocarcinoma(304;0.000302)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00856)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	GTTTGGTTATCTGGGACAATG	0.468000													11	107					0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	48999847	48999847	+	Nonstop_Mutation	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:48999847A>G	uc010omx.1	-	12	1677	c.1519T>C	c.(1519-1521)Taa>Caa	p.*507Q	AGBL4_uc001cru.2_Nonstop_Mutation_p.*504Q|AGBL4_uc010omw.1_Nonstop_Mutation_p.*228Q	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA.	0					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CCGTGTCTTTAAAAAGGGGTT	0.507000													14	91					0	0	1	0	0
LOC644936	644936	broad.mit.edu	37	5	79595691	79595691	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr5:79595691T>C	uc010jai.3	-	0	607	c.466A>G	c.(466-468)Agg>Ggg	p.R156G						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		TTCTGCATCCTGTTGGTGATG	0.517000													11	20					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34825520	34825520	+	Silent	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:34825520C>T	uc003oju.4	+	12	1827	c.1593C>T	c.(1591-1593)taC>taT	p.Y531Y	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_5'Flank	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	531										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTAATCTCTACATTCAGTTAA	0.398000													8	101					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49067112	49067112	+	Silent	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr17:49067112G>T	uc002itc.3	-	20	2948	c.2739C>A	c.(2737-2739)gtC>gtA	p.V913V	SPAG9_uc002itd.3_Silent_p.V903V|SPAG9_uc002itb.3_Silent_p.V899V|SPAG9_uc002itf.3_Silent_p.V734V|SPAG9_uc002ita.3_Silent_p.V756V|SPAG9_uc002ite.3_Silent_p.V743V	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	913					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCTCTGTGTAGACGCCAGTTT	0.473000													42	154					3.50607e-19	4.15118e-19	1	1	0
OR11H12	440153	broad.mit.edu	37	14	19378076	19378076	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr14:19378076A>G	uc010tkp.2	+	0	483	c.483A>G	c.(481-483)atA>atG	p.I161M		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I161I(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AACTGGTCATACTGTGCTGGG	0.473000													68	868					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1995508	1995508	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr16:1995508C>A	uc002cnh.3	-	8	1206	c.1159G>T	c.(1159-1161)Gcc>Tcc	p.A387S	TCRBV20S1_uc021tak.1_Intron|MSRB1_uc021tam.1_5'Flank	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	387					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						ACCATGAAGGCCCTCTTCTCT	0.597000													19	30					9.86323e-18	1.15854e-17	1	1	0
E2F2	1870	broad.mit.edu	37	1	23848337	23848337	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:23848337G>C	uc001bhe.2	-	2	997	c.570C>G	c.(568-570)atC>atG	p.I190M		NM_004091	NP_004082	Q14209	E2F2_HUMAN	Homo sapiens E2F transcription factor 2 (E2F2), mRNA.	190					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.N189D(1)		endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		ACACCCACTGGATGTTGTTCT	0.612000													38	60					0	0	1	0	0
GMPPB	29925	broad.mit.edu	37	3	49760823	49760823	+	Splice_Site	SNP	A	A	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:49760823A>C	uc003cxl.1	-	2	435	c.210_splice	c.e2+1	p.R70_splice	GMPPB_uc003cxk.1_Splice_Site_p.R70_splice	NM_013334	NP_037466	Q9Y5P6	GMPPB_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase B (GMPPB), transcript variant 1, mRNA.	70					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTGCCTCACCCTCTGCTC	0.607000													6	62					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7822115	7822115	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr10:7822115C>G	uc001ijt.3	-	3	374	c.280G>C	c.(280-282)Gtc>Ctc	p.V94L	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_5'UTR	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	94					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TCGTTGTAGACAATGTTGTTG	0.403000													43	68					0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16054269	16054269	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:16054269T>G	uc010obo.2	+	8	1929	c.1702T>G	c.(1702-1704)Tct>Gct	p.S568A		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	568					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CGCTGAGGATTCTGGGGTGGA	0.622000													43	105					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201043744	201043744	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:201043744G>C	uc001gvv.3	-	13	2180	c.1953C>G	c.(1951-1953)atC>atG	p.I651M		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	651					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)	CATTGAGCAGGATGTCTGAGC	0.587000													39	79					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113526110	113526110	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr13:113526110T>C	uc001vsj.4	+	25	3141	c.3053T>C	c.(3052-3054)cTa>cCa	p.L1018P	ATP11A_uc001vsi.4_Missense_Mutation_p.L1018P|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	1018					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACAGTTACACTAAAGGTAAGT	0.483000													19	30					0	0	1	0	0
CHRM1	1128	broad.mit.edu	37	11	62677207	62677207	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:62677207G>A	uc021qko.1	-	0	1366	c.1366C>T	c.(1366-1368)Ccc>Tcc	p.P456S	CHRM1_uc001nwi.3_Missense_Mutation_p.P456S	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	456					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	TGGCGGGAGGGAGTGCGGTGC	0.667000													10	40					0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93016234	93016234	+	Silent	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr15:93016234T>C	uc002brc.1	+	1	898	c.426T>C	c.(424-426)gaT>gaC	p.D142D	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	142										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			TGTGTACAGATTGCAAATTCA	0.473000													3	97					0	0	1	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033483	37033483	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:37033483C>A	uc003cgk.3	-	0	1313	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F	MLH1_uc011aye.2_5'Flank|MLH1_uc003cgl.3_5'Flank|MLH1_uc011ayb.2_5'Flank|MLH1_uc010hge.3_5'Flank|MLH1_uc011ayc.2_5'Flank|MLH1_uc011ayd.2_5'Flank|MLH1_uc003cgo.3_5'Flank|MLH1_uc003cgn.4_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	Homo sapiens EPM2A (laforin) interacting protein 1 (EPM2AIP1), mRNA.	362						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						CTACTGAAACCAAGAACGCTT	0.413000													7	46					0.000442599	0.000454894	1	1	0
OVOL1	5017	broad.mit.edu	37	11	65562812	65562812	+	Nonstop_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:65562812A>T	uc001ofp.3	+	3	1144	c.804A>T	c.(802-804)tgA>tgT	p.*268C	OVOL1_uc001ofq.3_Nonstop_Mutation_p.*206C	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	0					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CCCACCTGTGAGTGGCTCGAG	0.652000													3	31					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214816102	214816102	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:214816102C>T	uc001hkm.3	+	11	4595	c.4421C>T	c.(4420-4422)cCa>cTa	p.P1474L		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1570	2 X 96 AA approximate tandem repeats.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGGCTCGTTCCATCCCTGTCA	0.473000													3	55					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10398689	10398689	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:10398689G>C	uc003myr.3	-	6	1527	c.1275C>G	c.(1273-1275)aaC>aaG	p.N425K	TFAP2A_uc003myq.3_Missense_Mutation_p.N419K|TFAP2A_uc003mys.3_Non-coding_Transcript|TFAP2A_uc011dih.2_3'UTR|TFAP2A_uc003myt.3_Missense_Mutation_p.N421K	NM_003220	NP_003211	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.	425					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Golgi apparatus|centrosome|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TGCTTTTGGCGTTGTTGTCCG	0.637000													35	75					0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14808189	14808189	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:14808189A>T	uc001mln.3	+	2	1589	c.1236A>T	c.(1234-1236)gaA>gaT	p.E412D	PDE3B_uc010rcr.2_Intron	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	412					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTGTTCTGAAATAGAGGACC	0.373000													46	70					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	175996826	175996826	+	Splice_Site	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:175996826T>C	uc001gku.1	-	15	1869	c.1613_splice	c.e15-1	p.V538_splice	RFWD2_uc001gkv.1_Splice_Site_p.V514_splice|RFWD2_uc001gkw.1_Splice_Site_p.V298_splice|RFWD2_uc009wwv.2_Splice_Site_p.V337_splice|RFWD2_uc001gkt.1_Splice_Site_p.V377_splice	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	538					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACAGCTTCACTAAGGGCAAAG	0.388000													29	40					0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65562811	65562811	+	Nonstop_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:65562811G>T	uc001ofp.3	+	3	1143	c.803G>T	c.(802-804)tGa>tTa	p.*268L	OVOL1_uc001ofq.3_Nonstop_Mutation_p.*206L	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	0					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CCCCACCTGTGAGTGGCTCGA	0.657000													3	31					0.115264	0.116048	1	1	0
AATK	9625	broad.mit.edu	37	17	79095314	79095314	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr17:79095314G>T	uc010dia.3	-	10	2502	c.2422C>A	c.(2422-2424)Cca>Aca	p.P808T	AATK_uc010dhz.3_Non-coding_Transcript|AATK_uc021ueu.1_Missense_Mutation_p.P705T	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	808	Pro-rich.					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)			GAGGGAAGTGGGGCTCCCTCC	0.701000													12	38					3.27435e-08	3.51162e-08	1	1	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:29910607G>C	uc003nol.3	+	1	231	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Silent_p.V49V|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Missense_Mutation_p.G93R|HLA-A_uc010klp.2_Silent_p.V21V|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity	p.V49V(4)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	8					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32616873	32616873	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr8:32616873A>T	uc003xiv.2	+	9	1497	c.980A>T	c.(979-981)gAa>gTa	p.E327V	NRG1_uc022ats.1_Missense_Mutation_p.E277V|NRG1_uc011lbf.1_Missense_Mutation_p.E324V|NRG1_uc010lvo.2_Missense_Mutation_p.E324V|NRG1_uc003xiu.2_Missense_Mutation_p.E332V|NRG1_uc003xiw.2_Missense_Mutation_p.E324V|NRG1_uc003xit.2_Missense_Mutation_p.E327V|NRG1_uc010lvr.2_Missense_Mutation_p.E69V|NRG1_uc010lvs.2_Missense_Mutation_p.E69V|NRG1_uc010lvp.2_Missense_Mutation_p.E281V|NRG1_uc010lvq.2_Missense_Mutation_p.E257V|NRG1_uc011lbg.1_Missense_Mutation_p.E173V|NRG1_uc011lbh.1_Missense_Mutation_p.E170V|NRG1_uc003xja.2_Missense_Mutation_p.E138V	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	327					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTTGAGAGAGAAGCAGAGACA	0.408000													29	76					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170136009	170136009	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:170136009T>A	uc002ues.3	-	11	1651	c.1438A>T	c.(1438-1440)Aaa>Taa	p.K480*	LRP2_uc010zdf.1_Nonsense_Mutation_p.K480*	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	480					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGATAGATTTTATTATTAACC	0.393000													19	46					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46781755	46781755	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr16:46781755C>A	uc002eei.4	-	0	467	c.351G>T	c.(349-351)atG>atT	p.M117I	MYLK3_uc010vge.2_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	117					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCGCAGCCACCATCCTGAAGA	0.657000													39	36					5.20006e-24	6.20652e-24	1	1	0
TRPM2	7226	broad.mit.edu	37	21	45825794	45825794	+	Silent	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr21:45825794C>T	uc010gpt.1	+	17	2764	c.2664C>T	c.(2662-2664)atC>atT	p.I888I	TRPM2_uc002zet.1_Silent_p.I888I|TRPM2_uc002zeu.1_Silent_p.I888I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I888I|TRPM2_uc002zex.1_Silent_p.I674I|TRPM2_uc002zey.1_Silent_p.I401I	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	888						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						CCAGGCTCATCCCGGCGACGC	0.642000													6	7					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31521404	31521404	+	Missense_Mutation	SNP	G	G	A	rs2240432	by1000genomes	TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr22:31521404G>A	uc003aju.4	+	1	771	c.679G>A	c.(679-681)Gca>Aca	p.A227T	INPP5J_uc010gwf.3_Missense_Mutation_p.A227T|INPP5J_uc003ajw.3_Intron|INPP5J_uc003ajt.4_Intron|INPP5J_uc003ajv.4_Intron|INPP5J_uc003ajs.4_Intron|INPP5J_uc011alk.2_Missense_Mutation_p.A160T|INPP5J_uc010gwg.3_Intron	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	227	Pro-rich.					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GGCATCAGGCGCAGCCTCTGT	0.632000													3	69					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67291218	67291218	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr14:67291218A>C	uc001xiy.3	+	3	1349	c.228A>C	c.(226-228)gaA>gaC	p.E76D	GPHN_uc001xiw.3_Intron|GPHN_uc001xix.3_Missense_Mutation_p.E76D|GPHN_uc010tss.2_Missense_Mutation_p.E76D|GPHN_uc010tst.2_Intron|GPHN_uc010tsu.2_5'UTR	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	76	MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GGTGTGATGAAAAGGAACTTA	0.393000			T	MLL	AL								9	36					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40021223	40021223	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr17:40021223C>T	uc002hyf.1	-	0	407	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	134	BTB.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CCGTCCCGAGCGGGACTCGGA	0.692000													3	50					0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94231479	94231479	+	Silent	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:94231479C>T	uc001pew.3	+	2	640	c.501C>T	c.(499-501)atC>atT	p.I167I	ANKRD49_uc001pex.3_3'UTR|ANKRD49_uc001pey.3_Non-coding_Transcript	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	Homo sapiens ankyrin repeat domain 49 (ANKRD49), mRNA.	167					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGCAGATATCAATGCCCAAA	0.498000													4	82					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18057182	18057182	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr17:18057182C>G	uc021trm.1	+	41	8279	c.8060C>G	c.(8059-8061)gCc>gGc	p.A2687G	MYO15A_uc021trl.1_Missense_Mutation_p.A2685G|MYO15A_uc010vxi.2_5'UTR|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2687	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TATCAGGACGCCCCCTGGAAG	0.657000													49	158					0	0	1	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2181135	2181135	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:2181135G>T	uc021qcd.1	-	1	518	c.280C>A	c.(280-282)Caa>Aaa	p.Q94K	IGF2_uc001lvi.3_Intron|INS-IGF2_uc001lvm.3_Intron|INS-IGF2_uc001lvo.1_Missense_Mutation_p.Q94K|INS-IGF2_uc001lvn.2_Missense_Mutation_p.Q94K|INS-IGF2_uc009ydg.1_Missense_Mutation_p.Q82K	NM_001185098	NP_001172027	Q1WM24	Q1WM24_HUMAN	Homo sapiens insulin (INS), transcript variant 3, mRNA.	0					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GTACAGCATTGTTCCACAATG	0.672000													14	26					0.0332995	0.0337557	1	1	0
SCNN1B	6338	broad.mit.edu	37	16	23360139	23360139	+	Silent	SNP	C	C	G	rs151171880		TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr16:23360139C>G	uc002dln.3	+	1	395	c.219C>G	c.(217-219)acC>acG	p.T73T		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	73					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCATCAGGACCTACTTGAGCT	0.587000													84	100					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71053580	71053580	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr8:71053580G>A	uc003xyn.1	-	13	3029	c.2867C>T	c.(2866-2868)cCg>cTg	p.P956L	NCOA2_uc011lfb.1_Missense_Mutation_p.P44L	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	956					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CGAACTCTGCGGTGCCCATTC	0.532000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								21	99					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17817447	17817447	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr6:17817447C>T	uc003ncg.4	-	16	1964	c.1804G>A	c.(1804-1806)Gtt>Att	p.V602I	KIF13A_uc003ncf.3_Missense_Mutation_p.V602I|KIF13A_uc003nch.4_Missense_Mutation_p.V602I|KIF13A_uc003nci.4_Missense_Mutation_p.V602I|KIF13A_uc003ncj.3_Missense_Mutation_p.V278I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	602					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGGACCTGAACCACATTTTGA	0.532000													31	66					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61824902	61824902	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:61824902C>A	uc010oos.2	+	6	1119	c.1037C>A	c.(1036-1038)cCa>cAa	p.P346Q	NFIA_uc001czy.3_Missense_Mutation_p.P293Q|NFIA_uc001czw.3_Missense_Mutation_p.P301Q|NFIA_uc001czv.3_Missense_Mutation_p.P301Q	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	301					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GGGCGCTCCCCAGGAAGTGGC	0.527000													67	139					7.31121e-38	8.94264e-38	1	1	0
RUFY3	22902	broad.mit.edu	37	4	71588406	71588406	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr4:71588406G>T	uc003hfr.3	+	0	711	c.116G>T	c.(115-117)tGg>tTg	p.W39L	RUFY3_uc003hfp.4_Intron|RUFY3_uc003hfq.3_Missense_Mutation_p.W39L|RUFY3_uc011cax.2_Missense_Mutation_p.W39L	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	39					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GATGGAGAATGGCTCTGCCTG	0.532000													73	120					6.16549e-39	7.60411e-39	1	1	0
ESPNP	284729	broad.mit.edu	37	1	17033878	17033878	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:17033878C>T	uc001azn.1	-	3	601	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	ESPNP_uc010ocj.1_3'UTR					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		TCGCGGACTTCCAGCTCCGCG	0.716000													7	25					0	0	1	0	0
ATPAF1-AS1	374973	broad.mit.edu	37	1	47138819	47138819	+	Missense_Mutation	SNP	T	T	G	rs614486	by1000genomes	TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:47138819T>G	uc001cqj.3	+	1	422	c.312T>G	c.(310-312)gaT>gaG	p.D104E	KIAA0494_uc010omh.1_Intron|ATPAF1-AS1_uc010omi.2_Missense_Mutation_p.D28E|LOC100130197_uc021ond.1_5'Flank|LOC100130197_uc021one.1_5'Flank	NM_001145474	NP_001138946	Q6PEX7	ATAS1_HUMAN	Homo sapiens ATPAF1 antisense RNA 1 (non-protein coding) (ATPAF1-AS1), mRNA.	104			D -> E (in dbSNP:rs614486).			integral to membrane				endometrium(3)	3						TTCTGTGGGATTTGGACATCC	0.612000													3	97					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113316994	113316994	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr8:113316994G>A	uc003ynu.3	-	51	8381	c.8222C>T	c.(8221-8223)cCt>cTt	p.P2741L	CSMD3_uc003yns.3_Missense_Mutation_p.P1943L|CSMD3_uc003ynt.3_Missense_Mutation_p.P2701L|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2741	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTACCATTAGGAAGACATTC	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			42	69					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43826814	43826814	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:43826814G>C	uc001cix.3	+	8	1202	c.1101G>C	c.(1099-1101)caG>caC	p.Q367H	CDC20_uc001ciy.3_Missense_Mutation_p.Q367H	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	367					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCCCTGGCAGTCCAATGTCC	0.572000													28	42					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45637412	45637412	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:45637412T>G	uc003coq.3	+	0	1090	c.1041T>G	c.(1039-1041)agT>agG	p.S347R		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	347					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		ACCTTTCCAGTTCTGCCCCGT	0.622000													60	114					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67910858	67910858	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr16:67910858T>G	uc002eur.3	+	3	673	c.434T>G	c.(433-435)tTg>tGg	p.L145W	EDC4_uc010cer.3_5'UTR|EDC4_uc010vkg.1_Missense_Mutation_p.L77W|EDC4_uc002eus.3_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	145					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		AACTCCTTCTTGGCCTATGCC	0.507000													44	53					0	0	1	0	0
SYDE1	85360	broad.mit.edu	37	19	15220001	15220001	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr19:15220001A>T	uc002nah.1	+	1	254	c.223A>T	c.(223-225)Agc>Tgc	p.S75C	SYDE1_uc002nai.1_Intron|SYDE1_uc002naj.1_5'UTR	NM_033025	NP_149014	Q6ZW31	SYDE1_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 1 (C. elegans) (SYDE1), mRNA.	75	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CTACCTGCAAAGCCTGGAGCC	0.706000													9	17					0	0	1	0	0
AUP1	550	broad.mit.edu	37	2	74755401	74755401	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:74755401G>T	uc002smh.3	-	4	1059	c.372C>A	c.(370-372)ttC>ttA	p.F124L	DQX1_uc010yrw.2_5'Flank|AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_Missense_Mutation_p.F215L|AUP1_uc002smg.3_Non-coding_Transcript|AUP1_uc010yrx.2_Missense_Mutation_p.F272L|AUP1_uc021vjm.1_Missense_Mutation_p.F124L|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc010ffl.3_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA.	281						endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						TGAAAGGGACGAAAAGTGACC	0.537000													16	30					3.10358e-05	3.23472e-05	1	1	0
GALNT6	11226	broad.mit.edu	37	12	51758021	51758021	+	Silent	SNP	G	G	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr12:51758021G>C	uc001ryk.2	-	4	1158	c.933C>G	c.(931-933)ccC>ccG	p.P311P	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.P311P	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	311					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCTCTGGACGGGCTTGGCGA	0.577000													77	143					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190927181	190927181	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr2:190927181T>C	uc002urp.3	-	0	275	c.142A>G	c.(142-144)Act>Gct	p.T48A		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	48					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GAAGATTTAGTGTTTTGTCTC	0.378000													18	21					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120569801	120569801	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr12:120569801C>T	uc001txo.3	-	53	7356	c.7343G>A	c.(7342-7344)gGg>gAg	p.G2448E		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2448					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)					CCCTAGGCACCCGGCTGAGGA	0.567000													23	111					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133806739	133806739	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr8:133806739A>G	uc003ytt.3	+	2	492	c.167A>G	c.(166-168)gAg>gGg	p.E56G	PHF20L1_uc003ytr.3_Missense_Mutation_p.E56G|PHF20L1_uc010mdv.3_Missense_Mutation_p.E56G|PHF20L1_uc003yts.3_Missense_Mutation_p.E56G|PHF20L1_uc011lja.2_Missense_Mutation_p.E56G|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	56	Tudor 1.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CGTTATGATGAGTGGATTTAC	0.408000													36	65					0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173772297	173772298	+	Frame_Shift_Ins	INS	-	-	T	rs139873333	byFrequency	TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:173772297_173772298insT	uc001gjg.4	-	5	1507_1508	c.904_905insA	c.(904-906)atafs	p.I302fs	CENPL_uc001gje.4_Frame_Shift_Ins_p.I256fs|CENPL_uc001gjf.4_Frame_Shift_Ins_p.I256fs	NM_001127181	NP_001120653	Q8N0S6	CENPL_HUMAN	Homo sapiens centromere protein L (CENPL), transcript variant 1, mRNA.	256					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						CTCTGGATGTATTGCGAAAGAA	0.450													18	57	---	---	---	---					
CEP350	9857	broad.mit.edu	37	1	179959644	179959645	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr1:179959644_179959645delGA	uc001gnt.3	+	3	506_507	c.123_124delGA	c.(121-126)ctgagafs	p.L41fs	CEP350_uc001gnr.1_Intron|CEP350_uc009wxl.2_Frame_Shift_Del_p.L40fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	41						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACTTTAGCTGAGACACATTGA	0.337													14	53	---	---	---	---					
SCN10A	6336	broad.mit.edu	37	3	38740016	38740018	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:38740016_38740018delACT	uc003ciq.3	-	26	4693_4695	c.4693_4695delAGT	c.(4693-4695)agtdel	p.S1565del		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1565					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGAGAAGTAACTTTGAAGTGAC	0.478													18	99	---	---	---	---					
SCN10A	6336	broad.mit.edu	37	3	38740022	38740022	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr3:38740022delA	uc003ciq.3	-	26	4689	c.4689delT	c.(4687-4689)cttfs	p.L1563fs		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1563					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGTAACTTTGAAGTGACTTAA	0.478													18	88	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153250883	153250883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr4:153250883delG	uc003ims.3	-	7	1339	c.1177delC	c.(1177-1179)cgafs	p.R393fs	FBXW7_uc011cii.2_Frame_Shift_Del_p.R393fs|FBXW7_uc003imt.3_Frame_Shift_Del_p.R393fs|FBXW7_uc011cih.2_Frame_Shift_Del_p.R217fs|FBXW7_uc003imq.3_Frame_Shift_Del_p.R313fs|FBXW7_uc003imr.3_Frame_Shift_Del_p.R275fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	393					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R393*(13)|p.R313*(1)|p.R154*(1)|p.?(1)|p.R275*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTAACTATTCGGTTACCACAA	0.343			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								35	63	---	---	---	---					
LAMB4	22798	broad.mit.edu	37	7	107732109	107732120	+	In_Frame_Del	DEL	CCTCGTAGAGAT	CCTCGTAGAGAT	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr7:107732109_107732120delCCTCGTAGAGAT	uc010ljo.1	-	13	1736_1747	c.1652_1663delATCTCTACGAGG	c.(1651-1665)tatctctacgaggca>tca	p.551_555YLYEA>S	LAMB4_uc003vey.2_In_Frame_Del_p.551_555YLYEA>S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	551	Laminin EGF-like 5; truncated.|Laminin IV type B.				cell adhesion	basement membrane		p.Y553D(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCTTCCTCTGCCTCGTAGAGATAGAAATTCAA	0.491													23	96	---	---	---	---					
PTPN3	5774	broad.mit.edu	37	9	112219466	112219466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr9:112219466delC	uc004bed.2	-	3	388	c.276delG	c.(274-276)aggfs	p.R92fs	PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Frame_Shift_Del_p.R92fs|PTPN3_uc011lwh.1_Frame_Shift_Del_p.E10fs|PTPN3_uc004bee.4_Frame_Shift_Del_p.R92fs	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	92	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTAACTGCTTCCTGATGGCTT	0.413													32	82	---	---	---	---					
AKR1C2	1646	broad.mit.edu	37	10	5038014	5038014	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr10:5038014delA	uc001ihs.3	-	7	1027	c.614delT	c.(613-615)ttcfs	p.F205fs	AKR1C3_uc001ihr.3_Intron|AKR1C2_uc009xhy.3_Frame_Shift_Del_p.F179fs|AKR1C2_uc001iht.3_Frame_Shift_Del_p.F205fs	NM_001354	NP_001345	P52895	AK1C2_HUMAN	Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) (AKR1C2), transcript variant 1, mRNA.	205					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	TGACTTGCAGAAATCCAGCAG	0.393													51	542	---	---	---	---					
SORBS1	10580	broad.mit.edu	37	10	97170380	97170388	+	Splice_Site	DEL	CCTCTCTTA	CCTCTCTTA	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr10:97170380_97170388delCCTCTCTTA	uc001kkp.3	-	8	1000	c.955_splice	c.e8+1	p.E319_splice	SORBS1_uc001kkl.3_Splice_Site|SORBS1_uc001kkn.3_Splice_Site_p.E152_splice|SORBS1_uc001kkm.3_Splice_Site_p.E175_splice|SORBS1_uc001kko.3_Splice_Site_p.E319_splice|SORBS1_uc001kkq.3_Splice_Site_p.E250_splice|SORBS1_uc001kkr.3_Splice_Site_p.E155_splice|SORBS1_uc001kks.3_Splice_Site_p.E155_splice|SORBS1_uc001kkt.3_Splice_Site|SORBS1_uc001kku.3_Splice_Site_p.E196_splice|SORBS1_uc001kkv.3_Splice_Site_p.E287_splice|SORBS1_uc001kkw.3_Splice_Site_p.E319_splice|SORBS1_uc010qoe.2_Splice_Site_p.E164_splice|SORBS1_uc010qof.1_Splice_Site_p.E517_splice	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	319					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGGGCACAAGCCTCTCTTACCTCGATTGT	0.450													29	82	---	---	---	---					
MTG1	92170	broad.mit.edu	37	10	135209749	135209750	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr10:135209749_135209750insGC	uc001lnd.3	+	2	364_365	c.260_261insGC	c.(259-261)ttgfs	p.L87fs	MTG1_uc010qve.2_Frame_Shift_Ins_p.L3fs	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	87						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		AAGATGGACTTGGCGGATCTTA	0.515													42	64	---	---	---	---					
C11orf2	738	broad.mit.edu	37	11	64875862	64875862	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr11:64875862delG	uc001ocr.1	+	4	959	c.919delG	c.(919-921)ggafs	p.G307fs	C11orf2_uc001ocs.1_Frame_Shift_Del_p.G183fs	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	307					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						CACCGACCATGGAGGCAGTGG	0.706													7	13	---	---	---	---					
DDX12P	440081	broad.mit.edu	37	12	9573305	9573305	+	RNA	DEL	G	G	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr12:9573305delG	uc021qut.1	-	10		c.2093delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagggagCCCCCA	0.582													10	27	---	---	---	---					
YARS2	51067	broad.mit.edu	37	12	32908454	32908454	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr12:32908454delG	uc001rli.3	-	0	434	c.355delC	c.(355-357)ctgfs	p.L119fs		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA.	119					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|protein binding|tyrosine-tRNA ligase activity	p.L119Q(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GGGTCTCCCAGGCGCGCCGTG	0.682											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	29	---	---	---	---					
CDH24	64403	broad.mit.edu	37	14	23517629	23517629	+	Frame_Shift_Del	DEL	C	C	-	rs138543733	byFrequency	TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr14:23517629delC	uc001wil.3	-	12	2280	c.2020delG	c.(2020-2022)gagfs	p.E674fs	CDH24_uc010akf.3_Frame_Shift_Del_p.E636fs	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	674					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCCTCCTCCTCCAGTACCATC	0.662													9	15	---	---	---	---					
PDCD5	9141	broad.mit.edu	37	19	33077794	33077794	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr19:33077794delA	uc002ntm.3	+	4	363	c.289delA	c.(289-291)aaafs	p.K97fs	PDCD5_uc010ede.3_Intron	NM_004708	NP_004699	O14737	PDCD5_HUMAN	Homo sapiens programmed cell death 5 (PDCD5), mRNA.	97					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AGAAATCCTTAAAAAAGTAAG	0.323													43	82	---	---	---	---					
ZNF792	126375	broad.mit.edu	37	19	35450211	35450211	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr19:35450211delT	uc002nxh.1	-	3	935	c.548delA	c.(547-549)aacfs	p.N183fs		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTTGTGTACGTTCTGCTGCAC	0.542													101	174	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57782069	57782069	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr20:57782069delA	uc002yan.3	+	2	3985	c.3985delA	c.(3985-3987)aagfs	p.K1329fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1329						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGAGGGACTGAAGCCATGCAG	0.577													43	61	---	---	---	---					
NEFH	4744	broad.mit.edu	37	22	29885591	29885592	+	In_Frame_Ins	INS	-	-	CCTGAGAAGGCCAAGTCC			TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chr22:29885591_29885592insCCTGAGAAGGCCAAGTCC	uc003afo.3	+	3	2033_2034	c.1962_1963insCCTGAGAAGGCCAAGTCC	c.(1960-1965)insCCTGAGAAGGCCAAGTCC	p.654_655insPEKAKS	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	660	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGCCAAGTCCCCAGAGAAGGA	0.559													60	156	---	---	---	---					
FAM48B1	100130302	broad.mit.edu	37	X	24382371	24382373	+	In_Frame_Del	DEL	TAT	TAT	-	rs72220486		TCGA-MH-A561-01A-11D-A26P-10	TCGA-MH-A561-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e8ad1cd-d5d5-4bb4-8bbd-e9bef45088da	ebf9ee83-790d-43a8-ae04-e32e2f61bfa6	g.chrX:24382371_24382373delTAT	uc011mjx.2	+	0	1494_1496	c.1494_1496delTAT	c.(1492-1497)gctatt>gct	p.I499del		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						ctgctgctgctattgctgctgct	0.576													7	288	---	---	---	---					
