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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ALDH1B1	219	broad.mit.edu	37	9	38397198	38397198	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:38397198T>C	uc022bgy.1	+	0	1453	c.1453T>C	c.(1453-1455)Ttt>Ctt	p.F485L	ALDH1B1_uc004aay.3_Missense_Mutation_p.F485L	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	485					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ATTTGGAGGGTTTAAGGAATC	0.547000														33			15		0	0	0.000308642	0	0
CPSF3L	54973	broad.mit.edu	37	1	1249237	1249237	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:1249237A>G	uc001aef.1	-	10	1363	c.850T>C	c.(850-852)Tac>Cac	p.Y284H	CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Missense_Mutation_p.Y278H|CPSF3L_uc009vjz.1_Missense_Mutation_p.Y256H|CPSF3L_uc010nyj.1_Missense_Mutation_p.Y249H|CPSF3L_uc001aeg.1_Missense_Mutation_p.Y154H|CPSF3L_uc001aeh.1_Missense_Mutation_p.Y177H|CPSF3L_uc001aei.1_Missense_Mutation_p.Y180H|CPSF3L_uc001aek.1_Missense_Mutation_p.Y20H			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	278						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGCTTGTAGTAGTGGTTGGCC	0.577000														62			6		0	0	0.00116845	0	0
HCP5	10866	broad.mit.edu	37	6	31431623	31431623	+	RNA	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:31431623G>A	uc003ntl.3	+	1		c.576G>A			HCP5_uc021yup.1_5'Flank			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						aggcccccaaggggatccctg	0.577000														67			31		0	0	0.000339439	0	0
NPHP3	27031	broad.mit.edu	37	3	132407684	132407684	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:132407684G>A	uc003epe.2	-	20	3039	c.2935C>T	c.(2935-2937)Ccc>Tcc	p.P979S	NPHP3_uc003epd.2_Missense_Mutation_p.P221S	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	979					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGTGATCGGGATCTAAAGCT	0.478000														65			22		0	0	0.000295444	0	0
F8	2157	broad.mit.edu	37	X	154157027	154157027	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:154157027C>T	uc004fmt.3	-	13	5209	c.5038G>A	c.(5038-5040)Gaa>Aaa	p.E1680K		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1680					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TAGTCAATTTCCTCTTGATCT	0.408000														58			7		0	0	0.000274275	0	0
GPR17	2840	broad.mit.edu	37	2	128408726	128408726	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:128408726C>T	uc010yzn.2	+	3	1112	c.501C>T	c.(499-501)tcC>tcT	p.S167S	LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Silent_p.S167S|GPR17_uc010yzo.2_Silent_p.S139S|GPR17_uc002tpd.3_Silent_p.S139S	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	167						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CGGTCAAGTCCCTCAAGCTCC	0.632000														100			24		0	0	0.000878237	0	0
PVRL2	5819	broad.mit.edu	37	19	45375346	45375346	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:45375346A>G	uc002ozw.1	+	2	1105	c.715A>G	c.(715-717)Aaa>Gaa	p.K239E	PVRL2_uc002ozv.3_Missense_Mutation_p.K239E	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	239	Ig-like C2-type 1.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GGTCACCTGCAAAGTGGAGCA	0.602000														223			98		0	0	0.000781405	0	0
SMAGP	57228	broad.mit.edu	37	12	51639802	51639802	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:51639802C>T	uc001ryd.1	-	3	407	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	SMAGP_uc001rye.1_Missense_Mutation_p.E73K|SMAGP_uc001ryf.1_Non-coding_Transcript|DAZAP2_uc010snf.1_Intron	NM_001033873	NP_001029045	Q0VAQ4	SMAGP_HUMAN	Homo sapiens small cell adhesion glycoprotein (SMAGP), transcript variant 2, mRNA.	73						cytoplasmic vesicle membrane|integral to membrane|plasma membrane											GGCTCACCTTCTGTAGGTTCA	0.502000														53			20		0	0	0.000229342	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590850	125590850	+	Silent	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:125590850A>G	uc010inw.3	-	3	4620	c.3582T>C	c.(3580-3582)acT>acC	p.T1194T	ANKRD50_uc011cgo.2_Silent_p.T1015T	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1194	Ser-rich.							p.R1193G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TAGATGAAGTAGTTCTCAAAG	0.388000														30			8		0	0	0.000157383	0	0
ZNF208	7757	broad.mit.edu	37	19	22171599	22171599	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:22171599T>C	uc021urr.1	-	1	265	c.116A>G	c.(115-117)aAc>aGc	p.N39S	ZNF208_uc002nqo.1_Missense_Mutation_p.N39S|ZNF208_uc002nqq.3_Non-coding_Transcript	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAAGACCAGGTTTCTGTAGTT	0.418000														95			19		0	0	0.000295444	0	0
CWH43	80157	broad.mit.edu	37	4	49052780	49052780	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:49052780C>T	uc003gyv.3	+	14	2117	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	CWH43_uc011bzl.2_Silent_p.I618I	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	645					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AATTTAGGATCCCTGATGACC	0.393000														41			11		0	0	0.00010058	0	0
COL3A1	1281	broad.mit.edu	37	2	189850505	189850505	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:189850505G>A	uc002uqj.1	+	4	564	c.447_splice	c.e4+1	p.Q149_splice		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	149	Nonhelical region (N-terminal).				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTCCTCAGGTATAACAATT	0.433000														9			7		0	0	0.000157383	0	0
EPHA4	2043	broad.mit.edu	37	2	222321352	222321352	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:222321352C>T	uc002vmq.3	-	6	1626	c.1584G>A	c.(1582-1584)ttG>ttA	p.L528L	EPHA4_uc002vmr.2_Silent_p.L528L|EPHA4_uc010zlm.1_Silent_p.L469L	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	528	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGTAACCTCCAAGGGCTCAC	0.478000														53			10		0	0	0.000978159	0	0
NPL	80896	broad.mit.edu	37	1	182794924	182794924	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:182794924C>T	uc009wyb.3	+	11	1175	c.747C>T	c.(745-747)atC>atT	p.I249I	NPL_uc010pny.2_Non-coding_Transcript|NPL_uc001gpp.4_Silent_p.I249I|NPL_uc021pfz.1_Missense_Mutation_p.S221F|NPL_uc009wyc.3_Silent_p.I205I|NPL_uc001gpo.2_Silent_p.I230I	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), transcript variant 1, mRNA.	249					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AGTTTTGTATCCAGAGATTTA	0.328000														62			36		0	0	0.00111076	0	0
PDHA2	5161	broad.mit.edu	37	4	96761521	96761521	+	Silent	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:96761521T>C	uc003htr.4	+	0	283	c.220T>C	c.(220-222)Ttg>Ctg	p.L74L		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	74					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCGCATGGAATTGAAGGCAGA	0.512000														45			15		0	0	0.000219431	0	0
EVX1	2128	broad.mit.edu	37	7	27284924	27284924	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:27284924G>A	uc003szd.1	+	2	1170	c.684_splice	c.e2+1	p.K228_splice	EVX1_uc011jzn.1_Splice_Site_p.K46_splice|EVX1_uc010kuy.1_Splice_Site	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CACCATCAAGGTATGCGGGGT	0.607000														44			20		0	0	0.00047179	0	0
CSMD1	64478	broad.mit.edu	37	8	3165261	3165261	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:3165261G>A	uc022aqr.1	-	24	4296	c.3906C>T	c.(3904-3906)ctC>ctT	p.L1302L	CSMD1_uc011kwj.2_Silent_p.L695L|CSMD1_uc003wqe.3_Silent_p.L459L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1303	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGTGCAGTGGAGGTTGTTGT	0.453000														83			58		0	0	0.000781405	0	0
TREML1	340205	broad.mit.edu	37	6	41121581	41121581	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:41121581C>T	uc011duc.2	-	1	335	c.291G>A	c.(289-291)gaG>gaA	p.E97E	TREML1_uc003opx.3_Silent_p.E97E|TREML1_uc011dud.2_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	97	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCCAGCATCCTCTTCCTGCA	0.602000														55			12		0	0	0.000219431	0	0
SRGAP3	9901	broad.mit.edu	37	3	9166442	9166442	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:9166442G>A	uc003brf.1	-	1	903	c.227C>T	c.(226-228)tCc>tTc	p.S76F	SRGAP3_uc003brg.1_Missense_Mutation_p.S76F|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brk.3_Missense_Mutation_p.S76F	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	76	FCH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCGGATTTTGGAGGAGAAGCG	0.587000			T	RAF1	pilocytic astrocytoma									67			17		0	0	0.00121646	0	0
MYOCD	93649	broad.mit.edu	37	17	12666442	12666442	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:12666442G>C	uc002gno.2	+	13	2741	c.2442G>C	c.(2440-2442)aaG>aaC	p.K814N	MYOCD_uc002gnn.2_Missense_Mutation_p.K766N|MYOCD_uc002gnq.2_Missense_Mutation_p.K490N	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	766					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.S813P(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAGTCCCAAAGATACCCAGAT	0.483000														94			13		0	0	0.00010058	0	0
SQRDL	58472	broad.mit.edu	37	15	45965918	45965918	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:45965918C>T	uc001zvu.3	+	5	766	c.573C>T	c.(571-573)atC>atT	p.I191I	SQRDL_uc001zvv.3_Silent_p.I191I	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	191							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GCAATGCCATCTTCACCTTCC	0.463000														79			10		0	0	0.000442599	0	0
OR6T1	219874	broad.mit.edu	37	11	123814341	123814341	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:123814341G>A	uc010sab.2	-	0	205	c.205C>T	c.(205-207)Ctg>Ttg	p.L69L		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AACAGCTCCAGGAAGGAGAAA	0.493000														32			15		0	0	0.000308642	0	0
ZFP37	7539	broad.mit.edu	37	9	115805958	115805958	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:115805958C>T	uc011lwz.1	-	3	1013	c.985G>A	c.(985-987)Gtt>Att	p.V329I	ZFP37_uc004bgm.1_Missense_Mutation_p.V314I|ZFP37_uc011lxa.1_Missense_Mutation_p.V315I	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	314						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A329A(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCAGTATGAACTCTCTGATGG	0.403000														81			7		0	0	8.12818e-05	0	0
MDFI	4188	broad.mit.edu	37	6	41613910	41613910	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:41613910C>T	uc003oqq.4	+	2	330	c.123C>T	c.(121-123)tcC>tcT	p.S41S	MDFI_uc010jxn.3_Silent_p.S41S	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	41					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			TAACAGGATCCACTCACCCTG	0.622000														55			13		0	0	0.000422831	0	0
ZNF236	7776	broad.mit.edu	37	18	74637500	74637500	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:74637500C>T	uc002lmi.3	+	21	4209	c.4011C>T	c.(4009-4011)gcC>gcT	p.A1337A	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1337					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTCTCCCTGCCTCTGTGTCAG	0.493000														20			16		0	0	0.000566183	0	0
GSDMC	56169	broad.mit.edu	37	8	130789704	130789704	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:130789704C>T	uc003ysr.3	-	1	1012	c.130G>A	c.(130-132)Gat>Aat	p.D44N		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	44						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GAACGAGAATCCTTCTTCTTT	0.398000														77			9		0	0	0.000442599	0	0
ACMSD	130013	broad.mit.edu	37	2	135625155	135625155	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:135625155G>A	uc002ttz.3	+	5	560	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	ACMSD_uc002tua.3_Missense_Mutation_p.E107K|LOC100129961_uc010zbe.2_Non-coding_Transcript	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	165					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GAAGGCAGCCGAAAGGCTGAA	0.493000														68			31		0	0	0.000409698	0	0
SCN2A	6326	broad.mit.edu	37	2	166246021	166246021	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:166246021G>A	uc002udc.3	+	26	5995	c.5705G>A	c.(5704-5706)cGc>cAc	p.R1902H	SCN2A_uc002udd.3_Missense_Mutation_p.R1902H|SCN2A_uc002ude.3_Missense_Mutation_p.R1902H|SCN2A_uc021vry.1_Missense_Mutation_p.R402H	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1902			R -> T (associated with autism).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACGTTGAAACGCAAACAAGAG	0.433000														29			13		0	0	0.000219431	0	0
TCRDV2	0	broad.mit.edu	37	14	22931924	22931924	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:22931924G>A	uc010tms.2	+	2	172	c.-34_splice	c.e2-1		TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|TCRA_uc001wdv.4_Intron|TCRDV2_uc001wdx.4_Splice_Site|TCRDV2_uc010ajs.1_Splice_Site|TCRDV2_uc001wdz.4_Splice_Site|TCRDV2_uc010ajt.3_Splice_Site_p.R14_splice|TCRDV2_uc010aju.1_Splice_Site_p.R14_splice|TCRDV2_uc001wea.4_Splice_Site_p.R14_splice					RecName: Full=T-cell receptor delta chain C region;																		ATATTTGCAGGAAGTCAGCCT	0.388000														10			6		0	0	0.00116845	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290861	141290861	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:141290861C>T	uc022cfj.1	-	0	913	c.913G>A	c.(913-915)Gcc>Acc	p.A305T	MAGEC2_uc004fbu.2_Missense_Mutation_p.A305T	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	305	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGAATGGGCTCTCGGACCC	0.473000										HNSCC(46;0.14)				78			18		0	0	0.000566183	0	0
FLNB	2317	broad.mit.edu	37	3	58135710	58135710	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:58135710C>T	uc003djj.2	+	36	6390	c.6225C>T	c.(6223-6225)ttC>ttT	p.F2075F	FLNB_uc010hne.2_Silent_p.F2106F|FLNB_uc003djk.2_Silent_p.F2064F|FLNB_uc010hnf.2_Silent_p.F2051F|FLNB_uc003djl.2_Silent_p.F1895F|FLNB_uc003djm.2_Silent_p.F1882F|FLNB_uc010hng.1_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2075	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCACCAAATTCGCTGACGAGC	0.552000														129			35		0	0	0.000319135	0	0
CMYA5	202333	broad.mit.edu	37	5	79032417	79032417	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:79032417G>T	uc003kgc.3	+	1	7901	c.7829G>T	c.(7828-7830)aGa>aTa	p.R2610I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2610						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCAGAAATCAGAGAAGCAAAG	0.428000														26			6		1.12685e-05	9.73492e-05	0.000274275	1	0
SLITRK6	84189	broad.mit.edu	37	13	86369351	86369351	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:86369351G>A	uc001vll.1	-	1	1752	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	SLITRK6_uc021rla.1_Silent_p.F431F	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	431						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GGAGACCAAGGAACATGCCTT	0.348000														22			6		0	0	0.00116845	0	0
C14orf43	91748	broad.mit.edu	37	14	74206625	74206625	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:74206625G>A	uc010tud.1	-	0	334	c.87C>T	c.(85-87)ccC>ccT	p.P29P	C14orf43_uc001xot.3_Silent_p.P29P|C14orf43_uc001xou.3_Silent_p.P29P|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	29					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GCAGGGGAGGGGGCTGCTCCT	0.652000														40			10		0	0	0.000673444	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720842	135720842	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:135720842G>A	uc003eqv.2	+	1	1119	c.502G>A	c.(502-504)Gat>Aat	p.D168N	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	168					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTATAACAACGATGGGAACGC	0.433000														68			15		0	0	0.000422831	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456106	84456106	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:84456106C>T	uc010chj.3	+	7	824	c.735C>T	c.(733-735)atC>atT	p.I245I	ATP2C2_uc002fhx.3_Silent_p.I245I|ATP2C2_uc002fhy.3_Silent_p.I262I|ATP2C2_uc002fhz.3_Silent_p.I94I	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	245					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TCAGCAACATCGTCTTCATGG	0.602000														54			6		0	0	0.00116845	0	0
CCR1	1230	broad.mit.edu	37	3	46245360	46245360	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:46245360A>T	uc003cph.1	-	1	516	c.445T>A	c.(445-447)Ttt>Att	p.F149I	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.F149I	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	149					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ATGACACCAAAAGTGACGGTC	0.527000														44			10		0	0	0.000673444	0	0
OAS3	4940	broad.mit.edu	37	12	113403667	113403667	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:113403667C>T	uc001tug.3	+	11	2609	c.2522C>T	c.(2521-2523)tCc>tTc	p.S841F		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	841	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GAGATCATCTCCGAGATCCGA	0.597000														19			5		0	0	0.00116845	0	0
ABCC10	89845	broad.mit.edu	37	6	43416634	43416634	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:43416634C>T	uc003ouy.1	+	18	4190	c.3975C>T	c.(3973-3975)atC>atT	p.I1325I	ABCC10_uc003ouz.1_Silent_p.I1297I|ABCC10_uc010jyo.1_Silent_p.I431I	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1325	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGTTGGCTATCATCCCCCAGG	0.562000														34			24		0	0	0.00106085	0	0
TRRAP	8295	broad.mit.edu	37	7	98592250	98592250	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:98592250C>T	uc003upp.3	+	65	10255	c.10046C>T	c.(10045-10047)tCc>tTc	p.S3349F	TRRAP_uc011kis.2_Missense_Mutation_p.S3320F|TRRAP_uc003upr.3_Missense_Mutation_p.S3055F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3349					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATGTTACTCCGTGGCGTTT	0.537000														138			41		0	0	0.000589545	0	0
CTXN3	613212	broad.mit.edu	37	5	126993360	126993360	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:126993360C>T	uc003kul.4	+	2	721	c.147C>T	c.(145-147)ttC>ttT	p.F49F	CTXN3_uc003kum.4_Silent_p.F49F|CTXN3_uc021yde.1_Silent_p.F49F	NM_001048252	NP_001120857	Q4LDR2	CTXN3_HUMAN	Homo sapiens cortexin 3 (CTXN3), transcript variant 1, mRNA.	49						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		TCCGGTGCTTCCGGATTCTTT	0.468000														42			15		0	0	0.000308642	0	0
RELB	5971	broad.mit.edu	37	19	45515359	45515359	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:45515359C>T	uc021uvq.1	+	3	460	c.329C>T	c.(328-330)cCc>cTc	p.P110L	RELB_uc021uvp.1_Missense_Mutation_p.P107L	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	110						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TGGGGCTGCCCCCTGGGCCGA	0.761000														35			12		0	0	0.000308642	0	0
KRT8	3856	broad.mit.edu	37	12	53292506	53292506	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:53292506C>T	uc009zmk.1	-	6	1263	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	KRT8_uc001sbd.2_Missense_Mutation_p.E387K|KRT8_uc009zml.1_Missense_Mutation_p.E387K|KRT8_uc009zmm.1_Missense_Mutation_p.E387K	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	387	Tail.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGGCGATCTCGATGTCCAGG	0.667000														62			13		0	0	0.000566183	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87453455	87453455	+	Silent	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:87453455A>G	uc002fjz.1	-	5	595	c.568T>C	c.(568-570)Ttg>Ctg	p.L190L	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_5'UTR	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	190					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TCATTTTTCAACACGTGAGAA	0.383000														64			10		0	0	0.000442599	0	0
ADPRH	141	broad.mit.edu	37	3	119306413	119306413	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:119306413G>A	uc003ecs.3	+	4	1060	c.762G>A	c.(760-762)agG>agA	p.R254R	ADPRH_uc010hqv.3_Silent_p.R254R|ADPRH_uc011bjb.2_Silent_p.R147R|ADPRH_uc003ect.3_Silent_p.R254R	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	254					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.E253*(1)		breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		TGAAGGAGAGGGATCAGTTCT	0.517000														40			15		0	0	0.000219431	0	0
PARP12	64761	broad.mit.edu	37	7	139728475	139728475	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:139728475G>A	uc003vvl.1	-	8	2309	c.1435C>T	c.(1435-1437)Cca>Tca	p.P479S	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	479						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCGGGCCTGGAAACTTGGTA	0.488000														5			3		0	0	0.00024832	0	0
PCLO	27445	broad.mit.edu	37	7	82595332	82595332	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:82595332C>T	uc003uhx.2	-	3	4061	c.3772G>A	c.(3772-3774)Gaa>Aaa	p.E1258K	PCLO_uc003uhv.2_Missense_Mutation_p.E1258K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1197					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTGTTCTTCTGGGGCTGAT	0.413000														170			47		0	0	0.000781405	0	0
PON1	5444	broad.mit.edu	37	7	94937327	94937327	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:94937327C>T	uc003uns.3	-	5	791	c.694G>A	c.(694-696)Ggc>Agc	p.G232S	PON1_uc011kih.2_Missense_Mutation_p.G232S	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	232					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.D231N(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACATACTTGCCATCGGGTGAA	0.363000														27			9		0	0	0.000442599	0	0
PDDC1	347862	broad.mit.edu	37	11	772450	772450	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:772450A>G	uc001lrd.3	-	4	452	c.427T>C	c.(427-429)Ttc>Ctc	p.F143L	PDDC1_uc001lrc.3_Missense_Mutation_p.F143L|PDDC1_uc010qwm.2_Missense_Mutation_p.F93L|PDDC1_uc001lrf.1_Missense_Mutation_p.F107L|PDDC1_uc001lrg.1_Non-coding_Transcript|PDDC1_uc009ycg.3_Missense_Mutation_p.F93L|PDDC1_uc021qbo.1_Missense_Mutation_p.F93L|PDDC1_uc010qwn.1_Non-coding_Transcript|PDDC1_uc010qwo.1_Non-coding_Transcript|PDDC1_uc010qwp.1_Missense_Mutation_p.F107L|PDDC1_uc010qwq.1_Missense_Mutation_p.F57L|PDDC1_uc010qwr.1_Missense_Mutation_p.F143L|PDDC1_uc010qws.1_Missense_Mutation_p.F93L	NM_182612	NP_872418	Q8NB37	PDDC1_HUMAN	Homo sapiens Parkinson disease 7 domain containing 1 (PDDC1), mRNA.	143						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGCTGTCGAACACCCAGGAT	0.647000														68			22		0	0	0.000586117	0	0
KDM5C	8242	broad.mit.edu	37	X	53245323	53245323	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:53245323G>A	uc004drz.3	-	5	1247	c.714C>T	c.(712-714)atC>atT	p.I238I	KDM5C_uc022bxe.1_Silent_p.I171I|KDM5C_uc004dsa.3_Silent_p.I237I	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	238					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTGCCCCATAGATCTGTAGCT	0.532000			"""N, F, S"""		clear cell renal carcinoma									54			29		0	0	0.000339439	0	0
MYOM3	127294	broad.mit.edu	37	1	24384029	24384029	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:24384029C>T	uc001bin.4	-	36	4302	c.4139G>A	c.(4138-4140)cGa>cAa	p.R1380Q	MYOM3_uc001bil.4_Missense_Mutation_p.R273Q|MYOM3_uc001bim.4_Missense_Mutation_p.R1037Q	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1380	Ig-like C2-type 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CATGCGGTATCGGTCAAGGAA	0.527000														26			7		0	0	8.12818e-05	0	0
RPAP1	26015	broad.mit.edu	37	15	41813125	41813125	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:41813125G>A	uc001zod.3	-	21	3383	c.3259C>T	c.(3259-3261)Ctg>Ttg	p.L1087L		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	1087	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGCAGTAGCAGGGTTGGGACT	0.657000														48			24		0	0	0.000720815	0	0
GRM3	2913	broad.mit.edu	37	7	86394822	86394822	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:86394822G>A	uc003uid.3	+	1	1460	c.361G>A	c.(361-363)Gat>Aat	p.D121N	GRM3_uc010lef.3_Missense_Mutation_p.D119N|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	121					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACAAAAGTGGATGAAGCTGA	0.438000														28			5		0	0	0.000602214	0	0
DBH	1621	broad.mit.edu	37	9	136501618	136501618	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:136501618C>T	uc004cel.3	+	0	134	c.125C>T	c.(124-126)cCc>cTc	p.P42L		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	42					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGCTCGGCTCCCCGTGAGAGC	0.652000														26			9		0	0	0.000274275	0	0
GLG1	2734	broad.mit.edu	37	16	74508513	74508513	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:74508513C>T	uc002fcx.3	-	12	2033	c.1983G>A	c.(1981-1983)caG>caA	p.Q661Q	GLG1_uc002fcw.4_Silent_p.Q650Q|GLG1_uc002fcy.4_Silent_p.Q661Q|GLG1_uc002fcz.4_Silent_p.Q78Q	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	661						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CCAGATGGTCCTGAAGGCACT	0.463000														149			29		0	0	0.000409698	0	0
PHF10	55274	broad.mit.edu	37	6	170110373	170110373	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:170110373G>A	uc011egy.2	-	8	1151	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	PHF10_uc011egz.2_Missense_Mutation_p.P356S|PHF10_uc011eha.1_Missense_Mutation_p.P209S	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA.	358					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GAACGTTTGGGACCATCTTTT	0.473000														72			29		0	0	0.000692331	0	0
NEBL	10529	broad.mit.edu	37	10	21134200	21134200	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:21134200T>C	uc001iqi.3	-	11	1611	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	405					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTCAGAAGGTTGGTGATGTA	0.328000														25			13		0	0	0.000151284	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658824	49658824	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:49658824C>T	uc001jgu.3	-	8	1693	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	ARHGAP22_uc001jgs.3_Missense_Mutation_p.E360K|ARHGAP22_uc001jgt.3_Missense_Mutation_p.E450K|ARHGAP22_uc010qgl.2_Missense_Mutation_p.E407K|ARHGAP22_uc010qgm.2_Missense_Mutation_p.E456K|ARHGAP22_uc001jgv.3_Missense_Mutation_p.E148K|ARHGAP22_uc001jgr.3_Missense_Mutation_p.E167K	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	450	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGGGCACCTCCAGGGATGAG	0.677000														3			3		0	0	6.4e-05	0	0
TECRL	253017	broad.mit.edu	37	4	65147222	65147222	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:65147222G>A	uc003hcv.3	-	9	997	c.888C>T	c.(886-888)ttC>ttT	p.F296F	TECRL_uc010ihi.3_Non-coding_Transcript	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	296					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.F295F(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ATGAAACCAGGAAAAACATCC	0.333000														23			10		0	0	0.000151284	0	0
HECW2	57520	broad.mit.edu	37	2	197189721	197189721	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:197189721G>A	uc002utm.1	-	5	907	c.724C>T	c.(724-726)Cca>Tca	p.P242S	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	242	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGCCAAATTGGATTGGTGGTG	0.507000														141			32		0	0	0.00128727	0	0
NAV2	89797	broad.mit.edu	37	11	20057619	20057619	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:20057619C>T	uc010rdm.2	+	12	3313	c.2952C>T	c.(2950-2952)tcC>tcT	p.S984S	NAV2_uc001mpp.3_Silent_p.S897S|NAV2_uc001mpr.4_Silent_p.S961S|NAV2_uc021qew.1_Silent_p.S961S|NAV2_uc001mpt.2_Silent_p.S47S|NAV2_uc009yhx.3_Silent_p.S47S|NAV2_uc009yhy.1_5'UTR	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	984						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACCTGCCTCCTCTCGAAAAA	0.582000														40			14		0	0	0.000151284	0	0
RNH1	6050	broad.mit.edu	37	11	502099	502099	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:502099C>G	uc001lpk.1	-	0	1472	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	RNH1_uc001lpl.1_Missense_Mutation_p.E22Q|RNH1_uc001lpm.1_Missense_Mutation_p.E22Q|RNH1_uc001lpn.1_Missense_Mutation_p.E22Q|RNH1_uc001lpo.1_Missense_Mutation_p.E22Q|RNH1_uc001lpp.2_Missense_Mutation_p.E22Q|RNH1_uc001lpq.2_Missense_Mutation_p.E22Q|RNH1_uc001lpr.2_Missense_Mutation_p.E22Q|RNH1_uc001lps.2_Missense_Mutation_p.E22Q|RNH1_uc009ybx.2_Missense_Mutation_p.E22Q	NM_203389	NP_976323	P13489	RINI_HUMAN	Homo sapiens ribonuclease/angiogenin inhibitor 1 (RNH1), transcript variant 8, mRNA.	22					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGAGGAGCTCGGCCCATCTA	0.667000														22			8		0	0	0.000673444	0	0
TMEM246	84302	broad.mit.edu	37	9	104238208	104238208	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:104238208C>T	uc004bbm.3	-	1	1489	c.1167G>A	c.(1165-1167)ggG>ggA	p.G389G	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.G389G	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	389						integral to membrane											TGGAGAAGAGCCCGATGTGTT	0.517000														71			24		0	0	0.00047179	0	0
GRK7	131890	broad.mit.edu	37	3	141526599	141526599	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:141526599G>A	uc011bnd.2	+	2	1247	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	388	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GTTGCTGGACGAACACCATTC	0.428000														46			17		0	0	0.000422831	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448623	142448623	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:142448623G>A	uc011ksl.1	+	1	248	c.217G>A	c.(217-219)Gag>Aag	p.E73K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|TRBV29-1_uc022anu.1_Missense_Mutation_p.E69K					SubName: Full=V_segment translation product; Flags: Fragment;																		GGCCACATATGAGAGTGGATT	0.493000														15			5		0	0	0.000602214	0	0
ABCA4	24	broad.mit.edu	37	1	94546147	94546147	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:94546147C>T	uc001dqh.3	-	7	1090	c.986G>A	c.(985-987)gGa>gAa	p.G329E	ABCA4_uc010otn.1_Missense_Mutation_p.G329E	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	329					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGAGCCACCTCCCTCGGGGTA	0.517000														56			27		0	0	0.000339439	0	0
TUBB7P	56604	broad.mit.edu	37	4	190905467	190905467	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:190905467C>T	uc011clg.2	-	2	222	c.4G>A	c.(4-6)Gac>Aac	p.D2N				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	74					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										CGCACAGAGTCCATGGTGCCC	0.692000														49			5		0	0	0.000442599	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94917927	94917927	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:94917927C>T	uc003unp.3	+	14	3263	c.2981C>T	c.(2980-2982)tCt>tTt	p.S994F	PPP1R9A_uc010lfj.3_Missense_Mutation_p.S1270F|PPP1R9A_uc011kif.2_Missense_Mutation_p.S1192F|PPP1R9A_uc003unq.3_Intron|PPP1R9A_uc011kig.2_Missense_Mutation_p.S986F|PPP1R9A_uc003unr.3_Missense_Mutation_p.S283F	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	994	Interacts with TGN38 (By similarity).|SAM.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGCAGGTTTCTCACTGGTTA	0.448000										HNSCC(28;0.073)				62			18		0	0	0.000958276	0	0
ALPK2	115701	broad.mit.edu	37	18	56202686	56202686	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:56202686C>G	uc002lhj.4	-	4	4947	c.4733G>C	c.(4732-4734)cGt>cCt	p.R1578P	ALPK2_uc002lhk.1_Missense_Mutation_p.R909P	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1578							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACATACTGACGCTTTCTGGG	0.468000														94			11		0	0	0.000151284	0	0
TPD52L2	7165	broad.mit.edu	37	20	62500746	62500746	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:62500746G>T	uc002ygy.3	+	1	255	c.117G>T	c.(115-117)gaG>gaT	p.E39D	TPD52L2_uc021wgf.1_Missense_Mutation_p.E39D|TPD52L2_uc021wgg.1_Missense_Mutation_p.E39D|TPD52L2_uc011abk.2_Intron|TPD52L2_uc002ygz.3_Missense_Mutation_p.E39D|TPD52L2_uc002yha.3_Missense_Mutation_p.E39D|TPD52L2_uc002yhb.3_Missense_Mutation_p.E39D|TPD52L2_uc011abl.2_Missense_Mutation_p.E16D|TPD52L2_uc002yhc.3_Missense_Mutation_p.E39D|TPD52L2_uc002yhd.3_Missense_Mutation_p.E39D|TPD52L2_uc021wgh.1_Missense_Mutation_p.E39D|TPD52L2_uc021wgi.1_Intron	NM_199360	NP_955392	O43399	TPD54_HUMAN	Homo sapiens tumor protein D52-like 2 (TPD52L2), transcript variant 1, mRNA.	39					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					CTGCTGTTGAGGGTCTGACAG	0.552000														76			7		8.12818e-05	0.000700607	8.12818e-05	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639317	18639317	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:18639317C>T	uc003zne.4	+	6	894	c.742C>T	c.(742-744)Ctt>Ttt	p.L248F	ADAMTSL1_uc003znb.3_Missense_Mutation_p.L248F|ADAMTSL1_uc003znc.4_Missense_Mutation_p.L248F	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	248						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGGAACTTTCCTTGTGGACAA	0.443000														19			6		0	0	8.12818e-05	0	0
AOC3	8639	broad.mit.edu	37	17	41003657	41003657	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:41003657G>A	uc002ibv.3	+	0	457	c.297G>A	c.(295-297)gtG>gtA	p.V99V		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	99					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TCTTCTCAGTGGAGTTGCAGC	0.672000														59			7		0	0	0.000157383	0	0
GBA3	57733	broad.mit.edu	37	4	22820418	22820418	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:22820418G>A	uc003gqp.4	+	4	1373	c.1282G>A	c.(1282-1284)Gga>Aga	p.G428R	GBA3_uc010iep.3_Missense_Mutation_p.G121R|GBA3_uc011bxo.2_Missense_Mutation_p.G429R	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	428					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTGGAACCAGGGATACAGCAG	0.418000														9			3		0	0	6.4e-05	0	0
FGF6	2251	broad.mit.edu	37	12	4554735	4554735	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:4554735A>C	uc001qmr.1	-	0	46	c.2T>G	c.(1-3)aTg>aGg	p.M1R		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	1					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TCCCAGGGCCATCCACCTTGC	0.562000														13			4		0	0	0.00024832	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25268074	25268074	+	Silent	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:25268074T>C	uc002dod.4	-	0	782	c.375A>G	c.(373-375)aaA>aaG	p.K125K	ZKSCAN2_uc010vcl.2_5'UTR|ZKSCAN2_uc002doe.2_Silent_p.K125K	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	125	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTCCAGTCTCTTTCTCCAAAT	0.473000														69			24		0	0	0.00106085	0	0
CYTH4	27128	broad.mit.edu	37	22	37688692	37688692	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:37688692A>G	uc003arf.3	+	1	166	c.50A>G	c.(49-51)gAa>gGa	p.E17G	CYTH4_uc003ard.4_Missense_Mutation_p.E17G|CYTH4_uc003are.2_Missense_Mutation_p.E17G|CYTH4_uc011amw.2_5'UTR	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	17					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGGGAGACGGAAGAGTTACAG	0.607000														74			48		0	0	0.000781405	0	0
CDKAL1	54901	broad.mit.edu	37	6	20548862	20548863	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:20548862_20548863GG>TT	uc003ndd.2	+	3	379_380	c.212_213GG>TT	c.(211-213)tgg>tTT	p.W71F	CDKAL1_uc003nde.2_Intron|CDKAL1_uc021ymk.1_Missense_Mutation_p.W71F|CDKAL1_uc010jpo.1_Missense_Mutation_p.W71F|CDKAL1_uc003ndb.1_Missense_Mutation_p.W71F	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	71	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ATACGAACATGGGGTTGTTCTC	0.292000														516			12		0	0	6.4e-05	0	0
ZNF835	90485	broad.mit.edu	37	19	57175842	57175842	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:57175842C>G	uc010ygn.2	-	1	952	c.725G>C	c.(724-726)cGc>cCc	p.R242P		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GGTGTGGATGCGCTGGTGCTC	0.692000														14			9		0	0	0.000673444	0	0
PDPR	55066	broad.mit.edu	37	16	70166093	70166093	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:70166093G>A	uc002eyf.1	+	8	1844	c.887G>A	c.(886-888)tGg>tAg	p.W296*	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Nonsense_Mutation_p.W196*|PDPR_uc002eyg.1_Nonsense_Mutation_p.W24*	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	296					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ATTCGGAACTGGCAGGGTGGC	0.478000														38			6		0	0	0.00116845	0	0
CA2	760	broad.mit.edu	37	8	86389382	86389382	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:86389382C>T	uc003ydk.2	+	5	721	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	CA2_uc022axe.1_5'Flank	NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	181					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CTTCGATCCTCGTGGCCTCCT	0.507000														148			19		0	0	0.000175454	0	0
ASPH	444	broad.mit.edu	37	8	62479730	62479730	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:62479730G>A	uc003xuj.3	-	16	1566	c.1297C>T	c.(1297-1299)Cta>Tta	p.L433L	ASPH_uc011leg.2_Silent_p.L404L|ASPH_uc003xuo.2_Silent_p.L414L	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	433					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	ATCTTACCTAGAAATTGTTGC	0.453000														42			4		0	0	0.00024832	0	0
ZNF511	118472	broad.mit.edu	37	10	135165827	135165827	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:135165827C>T	uc021qbf.1	+	7	858	c.816C>T	c.(814-816)taC>taT	p.Y272Y	ZNF511_uc001lmp.2_Silent_p.Y113Y|ZNF511_uc001lmr.2_Silent_p.Y104Y|ZNF511_uc001lmq.1_Silent_p.Y85Y	NM_145806	NP_665805	Q8NB15	ZN511_HUMAN	Homo sapiens zinc finger protein 511 (ZNF511), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		ACAGCCTGTACCACCCTCCGC	0.627000														90			10		0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179666903	179666903	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179666903G>C	uc021vsy.1	-	2	482	c.257C>G	c.(256-258)tCt>tGt	p.S86C	TTN_uc021vsz.1_Missense_Mutation_p.S86C|TTN_uc021vta.1_Missense_Mutation_p.S86C|TTN_uc021vtb.1_Missense_Mutation_p.S86C|TTN_uc002unb.2_Missense_Mutation_p.S86C|TTN_uc002und.3_Missense_Mutation_p.S86C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	86	Ig-like 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCTTGTCCAGATCCATTGGT	0.557000														100			8		0	0	0.000673444	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137202	121137202	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:121137202G>A	uc003eec.4	+	26	3457	c.3317G>A	c.(3316-3318)gGa>gAa	p.G1106E	STXBP5L_uc011bji.2_Missense_Mutation_p.G1082E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	1106					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GCTTCGGCAGGAAAAGCATCC	0.473000														20			10		0	0	0.000673444	0	0
PIPSL	266971	broad.mit.edu	37	10	95720581	95720581	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:95720581C>T	uc009xuj.2	-	0	1092	c.573G>A	c.(571-573)atG>atA	p.M191I						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		AAAGATTGTTCATCACCACAA	0.463000														34			19		0	0	0.000175454	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125836892	125836892	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:125836892G>A	uc003eim.1	-	16	2128	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.I545I|ALDH1L1_uc003ein.1_5'Flank	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	646	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTGTGAACCCGATTTTCCTCA	0.637000														29			6		0	0	0.000157383	0	0
UNC79	57578	broad.mit.edu	37	14	94158199	94158199	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:94158199G>A	uc001ybv.1	+	44	7112	c.7029G>A	c.(7027-7029)caG>caA	p.Q2343Q	UNC79_uc001ybs.1_Silent_p.Q2321Q	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2498						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCCAAAATCAGAATGAATTCA	0.488000														58			28		0	0	0.00127121	0	0
CDX4	1046	broad.mit.edu	37	X	72673379	72673379	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:72673379C>T	uc011mqk.2	+	1	529	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	177						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGAAAAGTATCGTGTAGTTTA	0.358000														20			7		0	0	0.000274275	0	0
CFHR1	3078	broad.mit.edu	37	1	196796039	196796039	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:196796039A>G	uc001gtn.3	+	2	448	c.334A>G	c.(334-336)Att>Gtt	p.I112V	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	112	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TACTGTGCAAATTATTTGCAA	0.423000														90			8		0	0	0.000274275	0	0
TRIM2	23321	broad.mit.edu	37	4	154256063	154256063	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:154256063T>C	uc003inh.2	+	11	2346	c.2261T>C	c.(2260-2262)gTt>gCt	p.V754A	TRIM2_uc003ing.2_Missense_Mutation_p.V727A	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	727						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GATGGTCATGTTGTGGTTGCA	0.468000														31			6		0	0	0.000157383	0	0
SERPINB6	5269	broad.mit.edu	37	6	2949198	2949198	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:2949198C>T	uc003muk.3	-	4	2674	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	SERPINB6_uc003mui.3_Missense_Mutation_p.E110K|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Missense_Mutation_p.E227K|SERPINB6_uc003mum.3_Missense_Mutation_p.E227K|SERPINB6_uc003mun.3_Missense_Mutation_p.E227K|SERPINB6_uc003muo.3_Missense_Mutation_p.E227K	NM_004568	NP_004559	P35237	SPB6_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA.	227					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	ATATTCAGTTCCTTGCCAACA	0.453000														61			57		0	0	0.000781405	0	0
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:10408543C>T	uc002gmo.3	-	20	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	791	IQ.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458000														48			20		0	0	0.000175454	0	0
CMPK2	129607	broad.mit.edu	37	2	7001510	7001510	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:7001510G>A	uc002qyo.3	-	2	906	c.797C>T	c.(796-798)aCc>aTc	p.T266I	CMPK2_uc010yis.1_Missense_Mutation_p.T266I|CMPK2_uc010ewv.3_Missense_Mutation_p.T266I	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial (CMPK2), nuclear gene encoding mitochondrial protein, mRNA.	266					dTDP biosynthetic process	mitochondrion	ATP binding|UMP kinase activity|cytidylate kinase activity|thymidylate kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGTCACCGTGGTTTTACCTGC	0.443000														8			11		0	0	0.000673444	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045023	55045023	+	RNA	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:55045023C>T	uc010yfa.1	+	2		c.249C>T			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GTGACTCTCTCCTGTCATTCC	0.537000														44			16		0	0	0.000422831	0	0
XIRP2	129446	broad.mit.edu	37	2	168101234	168101234	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:168101234C>T	uc002udx.3	+	8	3421	c.3332C>T	c.(3331-3333)tCg>tTg	p.S1111L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S936L|XIRP2_uc010fpq.3_Missense_Mutation_p.S889L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	936					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAAAGTTTCGTTAATGACC	0.368000														19			7		0	0	0.000157383	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994088	140994088	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:140994088C>T	uc004fbt.3	+	3	1222	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	300							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTTTTCCCCAGTCTCCTCT	0.488000										HNSCC(15;0.026)				153			50		0	0	0.000781405	0	0
ZFAND4	93550	broad.mit.edu	37	10	46159129	46159129	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:46159129C>T	uc001jcp.4	-	1	287	c.45G>A	c.(43-45)atG>atA	p.M15I	ZFAND4_uc001jcm.4_Missense_Mutation_p.M15I|ZFAND4_uc009xmu.3_5'UTR|ZFAND4_uc001jcn.4_5'UTR|ZFAND4_uc001jco.4_Missense_Mutation_p.M15I|ZFAND4_uc001jcq.2_Non-coding_Transcript|ZFAND4_uc001jcr.2_Missense_Mutation_p.M15I	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	15							zinc ion binding										AAAATGGTCCCATGTTATCAT	0.363000														29			18		0	0	0.000295444	0	0
COL5A1	1289	broad.mit.edu	37	9	137715262	137715262	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:137715262G>A	uc004cfe.3	+	61	5027	c.4645_splice	c.e61-1	p.G1549_splice	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1549	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCTCCCCAGGGTCCAACTGG	0.602000														71			20		0	0	0.000586117	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930827	54930827	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:54930827C>T	uc003dhf.3	+	25	2346	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	CACNA2D3_uc003dhg.1_Silent_p.F672F|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	766						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CAGACCATTTCCCTCTCTGGT	0.512000														75			33		0	0	0.000491102	0	0
OGT	8473	broad.mit.edu	37	X	70779216	70779216	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:70779216C>T	uc004eaa.2	+	12	1940	c.1702C>T	c.(1702-1704)Cat>Tat	p.H568Y	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.H558Y|OGT_uc004eac.3_Missense_Mutation_p.H429Y|OGT_uc004ead.3_Missense_Mutation_p.H187Y	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	568					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTTGGGAATCATCCTACTTC	0.388000														52			17		0	0	0.00074312	0	0
CDH10	1008	broad.mit.edu	37	5	24498584	24498584	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:24498584A>C	uc003jgr.2	-	8	1944	c.1438T>G	c.(1438-1440)Ttg>Gtg	p.L480V	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	480	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L480F(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTAACATCCAAAATTCTCACA	0.398000										HNSCC(23;0.051)				42			16		0	0	0.000566183	0	0
PTPRT	11122	broad.mit.edu	37	20	41306677	41306677	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:41306677G>A	uc002xkg.3	-	6	1166	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	PTPRT_uc010ggj.3_Missense_Mutation_p.R328C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	328	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R328C(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTGGTGGTGCGATATTCCACT	0.562000														46			17		0	0	0.000958276	0	0
SRGAP2	23380	broad.mit.edu	37	1	206610338	206610339	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:206610338_206610339CG>AT	uc001hdy.3	+	11	1319_1320	c.1318_1319CG>AT	c.(1318-1320)cgg>ATg	p.R440M	SRGAP2_uc010prt.1_Missense_Mutation_p.R363M|SRGAP2_uc001hdx.3_Missense_Mutation_p.R440M|SRGAP2_uc010pru.2_Missense_Mutation_p.R439M|SRGAP2_uc010prv.1_Missense_Mutation_p.R364M	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	527					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.R387L(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AGGAATTTTCCGGGTGTCAGGA	0.406000														211			7		0	0	6.4e-05	0	0
SCN2A	6326	broad.mit.edu	37	2	166179817	166179817	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:166179817G>A	uc002udc.3	+	11	2113	c.1823G>A	c.(1822-1824)aGa>aAa	p.R608K	SCN2A_uc002udd.3_Missense_Mutation_p.R608K|SCN2A_uc002ude.3_Missense_Mutation_p.R608K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	608					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GACAGCCGAAGAGACTCTCTG	0.562000														33			5		0	0	0.000602214	0	0
HCN3	57657	broad.mit.edu	37	1	155254528	155254528	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:155254528C>T	uc001fjz.1	+	3	1077	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	HCN3_uc010pfz.1_Missense_Mutation_p.R52W	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	357						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGACTCTTCCCGGCGTCAGTA	0.597000														22			20		0	0	0.000175454	0	0
OR4C15	81309	broad.mit.edu	37	11	55322663	55322663	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:55322663G>A	uc010rig.2	+	0	881	c.881G>A	c.(880-882)gGa>gAa	p.G294E		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCCACCTGTGGATCTCACATT	0.433000										HNSCC(20;0.049)				56			13		0	0	0.000151284	0	0
OR51A4	401666	broad.mit.edu	37	11	4967442	4967442	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:4967442T>G	uc010qys.2	-	0	889	c.889A>C	c.(889-891)Act>Cct	p.T297P		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTGTTTAGTTTTTACACAA	0.393000														122			11		0	0	0.000219431	0	0
TDP1	55775	broad.mit.edu	37	14	90429640	90429640	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:90429640C>T	uc001xxy.3	+	2	481	c.182C>T	c.(181-183)tCa>tTa	p.S61L	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Missense_Mutation_p.S61L|TDP1_uc010atn.3_Missense_Mutation_p.S61L|TDP1_uc001xya.3_5'UTR|TDP1_uc001xyb.3_Non-coding_Transcript	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	61					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		AGGAAAATATCACCTGTGAAA	0.507000								Repair of DNA-protein crosslinks						58			24		0	0	0.000586117	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510274	41510274	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:41510274G>A	uc002opr.1	+	2	414	c.407G>A	c.(406-408)gGg>gAg	p.G136E	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.G96E	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	136					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AGGGACTTCGGGATGGGAAAG	0.567000														28			14		0	0	0.000422831	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650068	51650068	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:51650068C>T	uc002pvv.1	+	4	1154	c.1085C>T	c.(1084-1086)aCa>aTa	p.T362I	SIGLEC7_uc002pvw.1_Missense_Mutation_p.T269I|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	362					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GCTGGAGCCACAGCCCTGGTC	0.572000														82			26		0	0	0.000339439	0	0
DUOX1	53905	broad.mit.edu	37	15	45427789	45427789	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:45427789T>A	uc001zus.1	+	6	959	c.613T>A	c.(613-615)Ttt>Att	p.F205I	DUOX1_uc001zut.1_Missense_Mutation_p.F205I|DUOX1_uc010bee.1_5'UTR	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	205	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGACCCCGCTTTTCCCCGAGA	0.721000														5			4		0	0	0.00024832	0	0
MYH9	4627	broad.mit.edu	37	22	36737465	36737465	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:36737465G>A	uc003apg.3	-	2	671	c.440C>T	c.(439-441)cCc>cTc	p.P147L	MYH9_uc003aph.1_Missense_Mutation_p.P11L|MYH9_uc003api.1_Missense_Mutation_p.P147L	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	147	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GATGTGAGGGGGCATCTCGTG	0.532000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					123			17		0	0	0.000566183	0	0
SPTLC2	9517	broad.mit.edu	37	14	78043202	78043202	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:78043202C>G	uc001xub.3	-	3	727	c.539G>C	c.(538-540)gGa>gCa	p.G180A		NM_004863	NP_004854	O15270	SPTC2_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA.	180						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCGTGCAAATCCAAGATAGTT	0.413000														196			28		0	0	0.00106085	0	0
TMEM184B	25829	broad.mit.edu	37	22	38621498	38621498	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:38621498G>A	uc003avf.1	-	6	944	c.720C>T	c.(718-720)ctC>ctT	p.L240L	TMEM184B_uc003avh.2_Silent_p.L174L|TMEM184B_uc003avg.2_Silent_p.L240L|TMEM184B_uc010gxl.2_Non-coding_Transcript|TMEM184B_uc021wpo.1_5'Flank	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	240						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					TGTAGGGGCTGAGCAGCTCCC	0.587000														70			26		0	0	0.00106085	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881856	15881856	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:15881856G>A	uc010xor.1	-	3	541	c.521C>T	c.(520-522)tCc>tTc	p.S174F	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		TGTTCTTGAGGAAATCACAAT	0.527000														30			8		0	0	0.000157383	0	0
OR51V1	283111	broad.mit.edu	37	11	5221880	5221880	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5221880C>T	uc010qyz.2	-	0	51	c.51G>A	c.(49-51)acG>acA	p.T17T		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T17T(2)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAAGAATTCGTGCTGGTGC	0.428000														52			21		0	0	0.000229342	0	0
ATP13A5	344905	broad.mit.edu	37	3	193080362	193080362	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:193080362T>A	uc011bsq.2	-	3	449	c.449A>T	c.(448-450)aAa>aTa	p.K150I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	150					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTACCCAACTTTCTGAAACCG	0.443000														103			43		0	0	0.000781405	0	0
ODZ1	10178	broad.mit.edu	37	X	124028169	124028170	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:124028169_124028170CC>TT	uc010nqy.3	-	2	574_575	c.510_511GG>AA	c.(508-513)atggag>atAAag	p.170_171ME>IK	ODZ1_uc011muj.2_Missense_Mutation_p.170_171ME>IK|ODZ1_uc004euj.3_Missense_Mutation_p.170_171ME>IK	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	170	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GCTTGAGCCTCCATGTCACAAC	0.416000														41			9		0	0	6.4e-05	0	0
DSC3	1825	broad.mit.edu	37	18	28609493	28609493	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:28609493G>A	uc002kwj.4	-	3	611	c.456C>T	c.(454-456)ttC>ttT	p.F152F	DSC3_uc002kwi.4_Silent_p.F152F	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	152	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GAAACAATGGGAAAGGGCCCA	0.408000														43			10		0	0	0.000978159	0	0
MYH2	4620	broad.mit.edu	37	17	10435026	10435026	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:10435026G>A	uc010coi.3	-	21	2749	c.2621C>T	c.(2620-2622)gCa>gTa	p.A874V	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A874V|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	874					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTCCTTTTTGCCTCTGACTT	0.428000														51			28		0	0	0.000339439	0	0
MST1P2	11209	broad.mit.edu	37	1	16974495	16974495	+	RNA	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:16974495G>A	uc009vow.2	+	4		c.1305G>A			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGGTGAGACGGGAGGAGGGTA	0.642000														39			4		0	0	8.12818e-05	0	0
ENPP5	59084	broad.mit.edu	37	6	46135640	46135640	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:46135640C>T	uc003oxz.1	-	1	568	c.360G>A	c.(358-360)gcG>gcA	p.A120A	ENPP5_uc010jzc.1_Silent_p.A120A|ENPP5_uc011dvz.1_Silent_p.A26A|ENPP5_uc003oya.1_Silent_p.A120A	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	120						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATATTGGTGTCGCTTCTTCCC	0.408000														115			10		0	0	0.000442599	0	0
ABI3BP	25890	broad.mit.edu	37	3	100621520	100621520	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:100621520C>T	uc003dun.3	-	2	376	c.291G>A	c.(289-291)ccG>ccA	p.P97P	ABI3BP_uc003duo.2_Silent_p.P90P|ABI3BP_uc003dup.4_Silent_p.P90P	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	97						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCAGATATTTCGGCTCTGCAT	0.418000														30			11		0	0	0.00010058	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98369571	98369571	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:98369571C>T	uc001kmq.3	-	13	2196	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	PIK3AP1_uc001kmo.3_Missense_Mutation_p.E289K|PIK3AP1_uc001kmp.3_Missense_Mutation_p.E512K	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	690						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACTCCAAACTCCACTTTTGCA	0.532000														137			106		0	0	0.000781405	0	0
ITGAM	3684	broad.mit.edu	37	16	31284749	31284749	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:31284749C>T	uc002ebr.3	+	7	866	c.768C>T	c.(766-768)atC>atT	p.I256I	ITGAM_uc002ebq.3_Silent_p.I256I|ITGAM_uc010cam.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	256	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TAGTTGTCATCACGGATGGAG	0.493000														72			11		0	0	0.000978159	0	0
OR6K2	81448	broad.mit.edu	37	1	158670152	158670152	+	Silent	SNP	G	A	A	rs142441693	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:158670152G>A	uc001fsu.1	-	0	291	c.291C>T	c.(289-291)ctC>ctT	p.L97L		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ACATCTGCAGGAGACAACCAT	0.478000														24			20		0	0	0.000229342	0	0
OR4N4	283694	broad.mit.edu	37	15	22382676	22382676	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:22382676C>T	uc001yuc.1	+	6	1185	c.204C>T	c.(202-204)ttC>ttT	p.F68F	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.F68F	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ACTTGGCCTTCCTGGATGCAT	0.483000														267			29		0	0	0.000374591	0	0
TACR3	6870	broad.mit.edu	37	4	104510934	104510934	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:104510934T>C	uc003hxe.1	-	4	1444	c.1303A>G	c.(1303-1305)Agt>Ggt	p.S435G		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	435						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCATTGAAACTTGGGTCTCTT	0.493000														55			10		0	0	0.000673444	0	0
LIPH	200879	broad.mit.edu	37	3	185241906	185241907	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:185241906_185241907GG>TT	uc003fpm.3	-	4	780_781	c.670_671CC>AA	c.(670-672)cca>AAa	p.P224K	LIPH_uc010hyh.3_Missense_Mutation_p.P190K	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	224					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCTCCATTTGGGTAGAAGTCT	0.391000														526			11		0	0	6.4e-05	0	0
LRIG3	121227	broad.mit.edu	37	12	59307766	59307766	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:59307766G>A	uc001sqr.3	-	2	626	c.380C>T	c.(379-381)tCc>tTc	p.S127F	LRIG3_uc009zqh.3_Missense_Mutation_p.S67F|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	127						integral to membrane		p.L126I(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CACTTACAAGGAGAGAAGTGT	0.378000			T	ROS1	NSCLC									85			12		0	0	0.000151284	0	0
MGAT4C	25834	broad.mit.edu	37	12	86377306	86377306	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:86377306C>T	uc010sum.2	-	4	521	c.362G>A	c.(361-363)aGa>aAa	p.R121K	MGAT4C_uc001tal.4_Missense_Mutation_p.R97K|MGAT4C_uc001taj.4_Missense_Mutation_p.R97K|MGAT4C_uc001tak.4_Missense_Mutation_p.R97K|MGAT4C_uc001tai.4_Missense_Mutation_p.R97K|MGAT4C_uc001tah.4_Missense_Mutation_p.R97K	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	97					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTACGCTTTCTTTGTAAAGG	0.318000														145			42		0	0	0.000781405	0	0
OR8H2	390151	broad.mit.edu	37	11	55873002	55873002	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:55873002T>C	uc010riy.2	+	0	484	c.484T>C	c.(484-486)Tcc>Ccc	p.S162P		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CAACGTGGTTTCCATGAGCAG	0.428000										HNSCC(53;0.14)				125			37		0	0	0.000953801	0	0
DIAPH3	81624	broad.mit.edu	37	13	60737783	60737783	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:60737783C>T	uc001vht.3	-	0	337	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	DIAPH3_uc001vhw.1_Missense_Mutation_p.G40S|DIAPH3_uc010aed.1_Missense_Mutation_p.G40S|DIAPH3_uc010aee.1_Missense_Mutation_p.G40S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	40					actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TGTTGGGGGCCCTTCCTGCGC	0.711000														43			7		0	0	0.000442599	0	0
CUL4B	8450	broad.mit.edu	37	X	119708441	119708441	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:119708441C>T	uc004esw.3	-	1	469	c.32G>A	c.(31-33)gGg>gAg	p.G11E		NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	11	Ser-rich.				DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCATCATTCCCATCTCCTGA	0.433000														92			26		0	0	0.000409698	0	0
TTN	7273	broad.mit.edu	37	2	179474701	179474701	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179474701G>A	uc021vsy.1	-	220	43970	c.43745C>T	c.(43744-43746)cCa>cTa	p.P14582L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P8277L|TTN_uc021vta.1_Missense_Mutation_p.P8210L|TTN_uc021vtb.1_Missense_Mutation_p.P8085L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15509	Fibronectin type-III 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTACAGGTGGATCAGGGGG	0.403000														26			10		0	0	0.000673444	0	0
CDH26	60437	broad.mit.edu	37	20	58562670	58562670	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:58562670G>A	uc002ybe.3	+	7	1311	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	CDH26_uc002ybf.1_5'Flank|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	334	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGAGACCAACGAAGGGATATT	0.438000														42			7		0	0	0.000442599	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698282	111698282	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:111698282G>A	uc022cct.1	+	0	326	c.326G>A	c.(325-327)aGt>aAt	p.S109N	ZCCHC16_uc004epo.1_Missense_Mutation_p.S109N	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	109							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGTTAGAAAGTTGTGGGATC	0.408000														54			26		0	0	0.000720815	0	0
DOCK3	1795	broad.mit.edu	37	3	51264789	51264789	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:51264789C>T	uc011bds.2	+	15	1476	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	485	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGTAATAGTCCTCGCTGGGG	0.468000														98			26		0	0	0.000720815	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131688822	131688822	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:131688822G>A	uc002tsa.1	+	2	811	c.292G>A	c.(292-294)Gga>Aga	p.G98R	ARHGEF4_uc010fmw.1_Missense_Mutation_p.G744R|ARHGEF4_uc002tsb.1_Missense_Mutation_p.G98R|ARHGEF4_uc010fmx.1_Missense_Mutation_p.G98R|ARHGEF4_uc002trz.1_Missense_Mutation_p.G744R	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	98	ABR (APC-binding region) domain.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCACAAAGATGGAGTCAAGGT	0.557000														9			4		0	0	0.00024832	0	0
ACE	1636	broad.mit.edu	37	17	61564022	61564022	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:61564022A>G	uc002jau.2	+	13	2197	c.2163A>G	c.(2161-2163)atA>atG	p.I721M	ACE_uc010wpj.2_Missense_Mutation_p.I147M|ACE_uc010ddv.2_5'UTR|ACE_uc002jav.2_Missense_Mutation_p.I147M|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.I31M	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	721	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGCGGATCATAAAGAAGGTTC	0.552000														23			15		0	0	0.000422831	0	0
GCDH	2639	broad.mit.edu	37	19	13007022	13007022	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:13007022C>T	uc002mvq.3	+	7	716	c.639C>T	c.(637-639)atC>atT	p.I213I	GCDH_uc010xms.2_Silent_p.I180I|GCDH_uc002mvp.3_Silent_p.I213I|GCDH_uc010xmt.2_Intron|GCDH_uc010xmu.2_Silent_p.I169I	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	213					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						TCCCCAGGATCACGAACTCGC	0.612000														37			8		0	0	0.000157383	0	0
DYRK4	8798	broad.mit.edu	37	12	4722853	4722853	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:4722853G>T	uc001qmx.3	+	12	1657	c.1497G>T	c.(1495-1497)atG>atT	p.M499I	DYRK4_uc001qmy.2_Missense_Mutation_p.M498I|DYRK4_uc021qtq.1_Missense_Mutation_p.M353I|DYRK4_uc001qmz.2_Missense_Mutation_p.M212I|DYRK4_uc001qna.2_Missense_Mutation_p.M135I|DYRK4_uc010ser.2_Missense_Mutation_p.M136I	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	499						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGGTGTCCATGACCTCCCCAG	0.547000														40			13		4.93089e-13	4.31368e-12	0.000219431	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	140685	140685	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140685C>T	uc003jak.2	+	0	313	c.263C>T	c.(262-264)cCc>cTc	p.P88L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	88					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAAAGGGCACCCAGAAGCTCC	0.662000														13			7		0	0	0.000442599	0	0
RPAP1	26015	broad.mit.edu	37	15	41819162	41819162	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:41819162G>A	uc001zod.3	-	13	1975	c.1851C>T	c.(1849-1851)ccC>ccT	p.P617P		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	617						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGTAGCACAGGGTACTTTGT	0.567000														74			37		0	0	0.000814825	0	0
TEKT4	150483	broad.mit.edu	37	2	95539828	95539828	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:95539828C>T	uc002stw.1	+	2	781	c.688C>T	c.(688-690)Ccg>Tcg	p.P230S	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	230					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.P230P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCAGGCTCATCCGTACTCCAC	0.667000														46			11		0	0	0.000978159	0	0
ASB5	140458	broad.mit.edu	37	4	177190076	177190076	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:177190076T>C	uc003iuq.2	-	0	298	c.184A>G	c.(184-186)Acc>Gcc	p.T62A		NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	62					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TGTCCTTGGGTTACTCCATAA	0.393000														30			3		0	0	0.000602214	0	0
NOX5	79400	broad.mit.edu	37	15	69318985	69318985	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:69318985G>A	uc002ars.2	+	1	209	c.168G>A	c.(166-168)gtG>gtA	p.V56V	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.V38V|NOX5_uc002arp.2_Silent_p.V38V|NOX5_uc010bid.2_Silent_p.V49V|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Silent_p.V56V	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	56	EF-hand 1.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTCTGCATGTGAAAGAGGCAA	0.537000														54			15		0	0	0.00074312	0	0
PSPH	5723	broad.mit.edu	37	7	56079562	56079562	+	Splice_Site	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:56079562C>G	uc003trj.3	-	6	973	c.658_splice	c.e6-1	p.D220_splice	PSPH_uc003trh.3_Splice_Site_p.D191_splice|PSPH_uc003tri.3_Splice_Site_p.D191_splice	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	191					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	p.D191H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGAAAGCATCCTAAGAAGGA	0.388000														54			13		0	0	0.000151284	0	0
REG1B	5968	broad.mit.edu	37	2	79314715	79314715	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:79314715G>A	uc002sny.2	-	1	136	c.24C>T	c.(22-24)ttC>ttT	p.F8F	REG1B_uc010ffv.1_Silent_p.F8F|REG1B_uc010ffw.3_Silent_p.F8F	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	8					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGATCAGCATGAAGAACGAGT	0.493000														36			6		0	0	0.000157383	0	0
HNF1B	6928	broad.mit.edu	37	17	36093634	36093634	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:36093634G>A	uc002hok.4	-	2	946	c.725C>T	c.(724-726)tCc>tTc	p.S242F	HNF1B_uc021tvu.1_Missense_Mutation_p.S12F|HNF1B_uc010wdi.2_Missense_Mutation_p.S216F|HNF1B_uc021tvv.1_Missense_Mutation_p.S242F|HNF1B_uc021tvw.1_Missense_Mutation_p.S216F|HNF1B_uc010cve.1_Missense_Mutation_p.S50F	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	242					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A241V(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GATTTGCTGGGACGCGGGCCC	0.567000														284			51		0	0	0.000781405	0	0
PEX26	55670	broad.mit.edu	37	22	18567993	18567993	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:18567993C>T	uc002znp.4	+	4	992	c.783C>T	c.(781-783)atC>atT	p.I261I	PEX26_uc002znt.3_Intron|PEX26_uc002znq.4_Silent_p.I261I	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	Homo sapiens peroxisomal biogenesis factor 26 (PEX26), transcript variant 1, mRNA.	261					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTGCCTTGATCCTCTGTCTCC	0.557000														89			30		0	0	0.000491102	0	0
POP1	10940	broad.mit.edu	37	8	99168505	99168505	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:99168505C>T	uc003yij.4	+	14	2385	c.2285C>T	c.(2284-2286)tCc>tTc	p.S762F	POP1_uc011lgv.2_Missense_Mutation_p.S762F|POP1_uc003yik.3_Missense_Mutation_p.S762F	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	762					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GTGGGCACATCCATAGAGCAC	0.517000														69			59		0	0	0.000781405	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	102257	102257	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrGL000209.1:102257G>A	uc021vdb.1	+	2	203	c.192G>A	c.(190-192)ggG>ggA	p.G64G	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Silent_p.G64G	NM_014513	NP_055328	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5), mRNA.	64	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										ACAGAGAGGGGACGTTTAACC	0.537000														209			28		0	0	0.000227799	0	0
FAM107B	83641	broad.mit.edu	37	10	14816510	14816510	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:14816510G>A	uc001ina.1	-	0	387	c.153C>T	c.(151-153)acC>acT	p.T51T	FAM107B_uc010qbu.1_Non-coding_Transcript	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCACACGGACGGTGGAATGAG	0.562000														43			8		0	0	0.000442599	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645383	122645383	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:122645383A>C	uc003efz.1	-	8	1296	c.992T>G	c.(991-993)cTg>cGg	p.L331R	SEMA5B_uc011bju.1_Missense_Mutation_p.L273R|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.L331R|SEMA5B_uc010hro.1_Missense_Mutation_p.L273R|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	331	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTCCTCCAGCAGGAATCGGCC	0.617000														19			4		0	0	0.000602214	0	0
SLC1A3	6507	broad.mit.edu	37	5	36684074	36684074	+	Silent	SNP	G	A	A	rs140281779		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:36684074G>A	uc003jkj.4	+	8	1874	c.1398G>A	c.(1396-1398)acG>acA	p.T466T	SLC1A3_uc011cox.2_Silent_p.T359T|SLC1A3_uc010iuy.3_Intron	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	466					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.I465T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	ACGACATCACGCTCATCATCG	0.597000														104			20		0	0	0.000295444	0	0
PIK3CB	5291	broad.mit.edu	37	3	138461467	138461468	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:138461467_138461468GG>TT	uc011bmq.2	-	2	553_554	c.553_554CC>AA	c.(553-555)cct>AAt	p.P185N		NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	185	PI3K-RBD.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAAGTTTTCAGGGATGGATGGT	0.376000														487			15		0	0	6.4e-05	0	0
OR51V1	283111	broad.mit.edu	37	11	5221055	5221055	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5221055G>A	uc010qyz.2	-	0	876	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAAAGGTGGGAAAAGGATGT	0.433000														46			9		0	0	0.000274275	0	0
COLEC12	81035	broad.mit.edu	37	18	346919	346919	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:346919G>A	uc002kkm.3	-	4	918	c.703C>T	c.(703-705)Cag>Tag	p.Q235*		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	235					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TTGATTCGCTGGATAGCCTGG	0.507000														78			33		0	0	0.000692331	0	0
NAP1L4	4676	broad.mit.edu	37	11	2972492	2972493	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:2972492_2972493GG>TT	uc010qxm.2	-	14	1402_1403	c.1118_1119CC>AA	c.(1117-1119)ccc>cAA	p.P373Q	NAP1L4_uc001lxb.3_Non-coding_Transcript|NAP1L4_uc001lxc.3_Missense_Mutation_p.P373Q|NAP1L4_uc010qxn.2_Missense_Mutation_p.P373Q	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	373					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TACCAACCTTGGGGTTAATTTC	0.401000														564			12		0	0	6.4e-05	0	0
APOB	338	broad.mit.edu	37	2	21232202	21232203	+	Missense_Mutation	DNP	CG	AT	AT	rs146538280		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:21232202_21232203CG>AT	uc002red.3	-	25	7665_7666	c.7537_7538CG>AT	c.(7537-7539)cga>ATa	p.R2513I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2513					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R2513*(4)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAGGGTCTCTCGGAATTTGGCC	0.436000														488			13		0	0	6.4e-05	0	0
COL4A4	1286	broad.mit.edu	37	2	227985809	227985809	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:227985809C>T	uc021vxr.1	-	3	349	c.248G>A	c.(247-249)gGa>gAa	p.G83E	COL4A4_uc021vxs.1_Missense_Mutation_p.G83E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	83	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCAATGGGTCCTGGGGCTCC	0.542000														28			19		0	0	0.000229342	0	0
CA10	56934	broad.mit.edu	37	17	50008490	50008490	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:50008490G>A	uc002itv.4	-	3	893	c.157C>T	c.(157-159)Cct>Tct	p.P53S	CA10_uc002itw.4_Missense_Mutation_p.P47S|CA10_uc002itx.4_Missense_Mutation_p.P47S|CA10_uc002ity.4_Missense_Mutation_p.P47S|CA10_uc002itz.2_Missense_Mutation_p.P47S	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	47					brain development			p.V53M(1)|p.P47S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CAGAAAGAAGGAACTAGAAAC	0.428000														22			4		0	0	0.00024832	0	0
YLPM1	56252	broad.mit.edu	37	14	75248256	75248256	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:75248256C>T	uc001xqj.4	+	3	1634	c.1510C>T	c.(1510-1512)Cag>Tag	p.Q504*	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CAATTCATTTCAGAACATGAA	0.448000														28			10		0	0	0.000978159	0	0
PLXNA3	55558	broad.mit.edu	37	X	153693375	153693375	+	Silent	SNP	C	T	T	rs111936718		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:153693375C>T	uc004flm.3	+	10	2231	c.2058C>T	c.(2056-2058)atC>atT	p.I686I		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	686					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCTGAGATCCTGCCCAGTG	0.612000														7			6		0	0	0.000157383	0	0
PPM1K	152926	broad.mit.edu	37	4	89186164	89186164	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:89186164C>A	uc003hrm.4	-	5	1366	c.976G>T	c.(976-978)Gtg>Ttg	p.V326L		NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1K (PPM1K), nuclear gene encoding mitochondrial protein, mRNA.	326	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TGTTCAGTCACCGCATGGGCT	0.478000														104			7		2.17888e-05	0.000188021	0.000442599	1	0
SUV420H1	51111	broad.mit.edu	37	11	67942631	67942631	+	Silent	SNP	T	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:67942631T>G	uc001onm.1	-	4	653	c.397A>C	c.(397-399)Agg>Cgg	p.R133R	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_5'UTR|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Silent_p.R133R|SUV420H1_uc010rqa.1_Silent_p.R110R	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TCTTCCTGCCTTCCTTTAATA	0.398000														33			5		0	0	0.000602214	0	0
LOC649330	649330	broad.mit.edu	37	1	12907329	12907329	+	Missense_Mutation	SNP	C	T	T	rs2359490		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:12907329C>T	uc010obf.2	-	1	1040	c.814G>A	c.(814-816)Gat>Aat	p.D272N	LOC649330_uc009vno.2_Missense_Mutation_p.D272N	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	272							nucleic acid binding|nucleotide binding										TTTTCATCATCCTTGATCAAC	0.507000														160			13		0	0	0.000308642	0	0
FAM110B	90362	broad.mit.edu	37	8	59059713	59059713	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:59059713C>T	uc022auu.1	+	0	924	c.924C>T	c.(922-924)ttC>ttT	p.F308F	FAM110B_uc003xtj.1_Silent_p.F308F	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	308						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCCTCAACTTCCGCAGCGCAA	0.488000														47			17		0	0	0.000422831	0	0
SRM	6723	broad.mit.edu	37	1	11115049	11115049	+	Silent	SNP	G	C	C	rs143776030		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:11115049G>C	uc001arz.1	-	6	949	c.858C>G	c.(856-858)gcC>gcG	p.A286A		NM_003132	NP_003123	P19623	SPEE_HUMAN	Homo sapiens spermidine synthase (SRM), mRNA.	286					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GCACAAAGGCGGCGCGGTGCA	0.672000														53			9		0	0	0.000673444	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651908	121651908	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:121651908C>T	uc003vjy.3	+	11	3203	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	936					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATGAGGGCTCCCAACACATCT	0.453000														66			22		0	0	0.00047179	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				109			54		1.95512e-22	1.71631e-21	0.000781405	1	0
PHEX	5251	broad.mit.edu	37	X	22065203	22065203	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:22065203G>A	uc004dah.3	+	2	426	c.223G>A	c.(223-225)Gat>Aat	p.D75N	PHEX_uc011mjr.2_Missense_Mutation_p.D75N|PHEX_uc011mjs.2_5'UTR	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	75					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCTGTCTGTGGATCCTTGTGA	0.388000														97			24		0	0	0.000720815	0	0
LILRA1	11024	broad.mit.edu	37	19	55107358	55107358	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:55107358G>A	uc002qgh.1	+	5	1098	c.916G>A	c.(916-918)Gag>Aag	p.E306K	LILRA1_uc010yfg.1_Missense_Mutation_p.E304K|LILRA1_uc010yfh.2_Missense_Mutation_p.E306K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	306	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.E306K(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTCTCCTCCGAGTGGTCGGC	0.687000														70			13		0	0	0.000219431	0	0
TUBB6	84617	broad.mit.edu	37	18	12325656	12325656	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:12325656A>G	uc002kqw.3	+	3	903	c.868A>G	c.(868-870)Acc>Gcc	p.T290A	TUBB6_uc002kqv.3_Missense_Mutation_p.T218A|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	290					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GCCCGAGCTCACCCAGCAGAT	0.687000														44			18		0	0	0.000566183	0	0
MBTPS1	8720	broad.mit.edu	37	16	84092977	84092977	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:84092977G>C	uc002fhi.3	-	20	3263	c.2761C>G	c.(2761-2763)Cct>Gct	p.P921A	MBTPS1_uc002fhh.3_Missense_Mutation_p.P425A	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	921					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGAGGCCGAGGTTTTGGGTCT	0.527000														47			4		0	0	0.00024832	0	0
GBA2	57704	broad.mit.edu	37	9	35739703	35739703	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:35739703G>A	uc011lpd.2	-	9	2021	c.1522C>T	c.(1522-1524)Cta>Tta	p.L508L	GBA2_uc003zxw.3_Silent_p.L502L|GBA2_uc003zxx.1_5'Flank|GBA2_uc011lpb.1_Silent_p.L502L|GBA2_uc011lpc.1_Silent_p.L502L|GBA2_uc003zxy.1_Silent_p.L215L	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	502					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTCTGGTAGGGAGTCCTCA	0.562000														29			16		0	0	0.000422831	0	0
GPKOW	27238	broad.mit.edu	37	X	48979934	48979934	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:48979934C>T	uc004dmr.3	-	0	146	c.139G>A	c.(139-141)Gat>Aat	p.D47N		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA.	47						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						TTCAAGAAATCCTTCTCCTCC	0.632000														15			5		0	0	0.000602214	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764874	92764874	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:92764874C>T	uc003umh.1	-	4	1627	c.411G>A	c.(409-411)atG>atA	p.M137I	SAMD9L_uc003umj.1_Missense_Mutation_p.M137I|SAMD9L_uc003umi.1_Missense_Mutation_p.M137I|SAMD9L_uc010lfb.1_Missense_Mutation_p.M137I|SAMD9L_uc003umk.1_Missense_Mutation_p.M137I|SAMD9L_uc010lfc.1_Missense_Mutation_p.M137I|SAMD9L_uc010lfd.1_Missense_Mutation_p.M137I|SAMD9L_uc022ahh.1_Missense_Mutation_p.M137I	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	137								p.L136F(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTTTCTTTCATAAGAATTG	0.318000														38			11		0	0	0.000978159	0	0
ASPM	259266	broad.mit.edu	37	1	197073111	197073111	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:197073111G>A	uc001gtu.3	-	17	5527	c.5270C>T	c.(5269-5271)tCa>tTa	p.S1757L	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1757	IQ 6.|IQ 7.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGACTGTAGTGAAATAACAGC	0.358000														14			18		0	0	0.000958276	0	0
C12orf40	283461	broad.mit.edu	37	12	40040150	40040150	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:40040150C>T	uc001rmc.3	+	3	389	c.222C>T	c.(220-222)acC>acT	p.T74T	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	74										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GAAAACCAACCCATGTGAACA	0.274000														25			7		0	0	8.12818e-05	0	0
FMNL2	114793	broad.mit.edu	37	2	153484861	153484861	+	Silent	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:153484861G>C	uc002tye.3	+	17	2581	c.2214G>C	c.(2212-2214)cgG>cgC	p.R738R	FMNL2_uc010fob.3_Silent_p.R194R|FMNL2_uc002tyf.3_Silent_p.R187R	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	738	FH2.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCTTGATGCGGTTCCTACCAA	0.463000														111			17		0	0	0.000958276	0	0
UTP14A	10813	broad.mit.edu	37	X	129058844	129058844	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:129058844G>A	uc004euz.3	+	11	1512	c.1422G>A	c.(1420-1422)agG>agA	p.R474R	UTP14A_uc011mup.2_Silent_p.R422R|UTP14A_uc011muq.2_Silent_p.R420R	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	474					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						ATCAGTCCAGGAAGCAAAAAG	0.493000														152			52		0	0	0.000781405	0	0
ZIM3	114026	broad.mit.edu	37	19	57646923	57646923	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:57646923G>A	uc002qnz.1	-	4	1168	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGATTTCCAGGAAAAGGCTTT	0.378000														92			44		0	0	0.000437636	0	0
SMCHD1	23347	broad.mit.edu	37	18	2775864	2775864	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:2775864C>T	uc002klm.4	+	41	5497	c.5308C>T	c.(5308-5310)Cgt>Tgt	p.R1770C	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1770					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AACCCAAGGTCGTCAGCAGGT	0.408000														38			9		0	0	0.000442599	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255201	140255201	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140255201C>T	uc003lic.2	+	0	271	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.I48I	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGCATCGCTCAGGACC	0.647000														61			15		0	0	0.000422831	0	0
DNAH8	1769	broad.mit.edu	37	6	38885052	38885052	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:38885052T>A	uc021yzh.1	+	68	10287	c.10178T>A	c.(10177-10179)cTt>cAt	p.L3393H	DNAH8_uc003ooe.2_Missense_Mutation_p.L3176H|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTCAGGAAACTTGCAAAACCA	0.328000														70			8		0	0	0.000673444	0	0
CCDC110	256309	broad.mit.edu	37	4	186380286	186380286	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:186380286T>G	uc003ixu.4	-	5	1531	c.1455A>C	c.(1453-1455)gaA>gaC	p.E485D	CCDC110_uc003ixv.4_Missense_Mutation_p.E448D|CCDC110_uc011ckt.1_Missense_Mutation_p.E485D	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	485						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TACTCTTTTCTTCAACCAGAT	0.284000														47			6		0	0	0.000157383	0	0
FBN2	2201	broad.mit.edu	37	5	127654673	127654673	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:127654673G>A	uc003kuu.3	-	34	4931	c.4492C>T	c.(4492-4494)Caa>Taa	p.Q1498*		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1498	EGF-like 25; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAAATGTTTTGGAAGGAGCAT	0.323000														52			14		0	0	0.000219431	0	0
FRAS1	80144	broad.mit.edu	37	4	79173607	79173607	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:79173607G>A	uc003hlb.2	+	4	811	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	FRAS1_uc003hkw.3_Missense_Mutation_p.R124Q|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.3_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	124	VWFC 2.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R124Q(4)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGGGAAGTCCGATGTACCCCC	0.532000														45			7		0	0	0.000157383	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303172	151303172	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:151303172C>T	uc022cgz.1	-	0	921	c.921G>A	c.(919-921)agG>agA	p.R307R	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.R307R|MAGEA10_uc004ffm.2_Silent_p.R307R|MAGEA10_uc004ffl.3_Silent_p.R307R	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	307	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GACTCATCTTCCTAATTTCAG	0.498000														135			39		0	0	0.000319135	0	0
SLC22A18	5002	broad.mit.edu	37	11	2943699	2943699	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:2943699C>T	uc001lwx.3	+	9	1218	c.1000C>T	c.(1000-1002)Ctg>Ttg	p.L334L	SLC22A18_uc001lwy.3_Silent_p.L334L	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	334					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTTCTGCCTCCTGGTGCCCGG	0.657000														84			20		0	0	0.000586117	0	0
VIT	5212	broad.mit.edu	37	2	37035854	37035854	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:37035854C>T	uc002rpl.3	+	14	1931	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S	VIT_uc002rpm.3_Silent_p.S528S|VIT_uc010ezv.3_Silent_p.S506S|VIT_uc010ezw.3_Silent_p.S507S	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	528	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TTGAGATTTCCGACACGGACA	0.577000														46			30		0	0	0.000279167	0	0
CFHR5	81494	broad.mit.edu	37	1	196967338	196967338	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:196967338C>T	uc001gts.4	+	6	1179	c.1051C>T	c.(1051-1053)Cat>Tat	p.H351Y		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	351	Sushi 6.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGAATTTAATCATAATTCTAG	0.333000														4			7		0	0	8.12818e-05	0	0
NOS1	4842	broad.mit.edu	37	12	117693801	117693801	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:117693801G>A	uc001twn.2	-	16	3284	c.2573C>T	c.(2572-2574)cCc>cTc	p.P858L	NOS1_uc021ren.1_Intron|NOS1_uc021reo.1_Intron|NOS1_uc001twm.2_Intron	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	844	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATTGGGGAGGGGAGGCCCTTT	0.592000														69			23		0	0	0.00106085	0	0
AHDC1	27245	broad.mit.edu	37	1	27878356	27878356	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:27878356G>T	uc021ojw.1	-	0	271	c.271C>A	c.(271-273)Cct>Act	p.P91T	AHDC1_uc009vsy.3_Missense_Mutation_p.P91T|AHDC1_uc009vsz.1_Missense_Mutation_p.P91T|AHDC1_uc001boh.1_5'UTR	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	91	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGTGAGACAGGACGGGCTGCC	0.736000														42			7		2.0095e-06	1.73996e-05	8.12818e-05	1	0
B4GALT4	8702	broad.mit.edu	37	3	118935088	118935088	+	Splice_Site	SNP	G	A	A	rs145839681		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:118935088G>A	uc003ecg.3	-	7	1543	c.902_splice	c.e7+1	p.R301_splice	B4GALT4_uc003ece.1_Missense_Mutation_p.R301W|B4GALT4_uc003ech.3_Splice_Site_p.R301_splice|B4GALT4_uc003eci.3_Splice_Site_p.R301_splice|B4GALT4_uc011biy.1_Splice_Site	NM_212543	NP_997708	O60513	B4GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 (B4GALT4), transcript variant 1, mRNA.	301					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|metal ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	AGGACTTACCGTTCTGCGTTC	0.468000														50			21		0	0	0.000175454	0	0
MUC16	94025	broad.mit.edu	37	19	9056883	9056883	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:9056883G>A	uc002mkp.3	-	2	30767	c.30563C>T	c.(30562-30564)tCt>tTt	p.S10188F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10190	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGGAGAAGAAGGTGTATT	0.463000														35			5		0	0	0.00116845	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209737	140209737	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140209737G>A	uc003lho.2	+	0	2088	c.2061G>A	c.(2059-2061)gcG>gcA	p.A687A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.A687A	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	697	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGCCGCGGGCCCAGAGG	0.672000														43			4		0	0	0.00116845	0	0
KCNT1	57582	broad.mit.edu	37	9	138660731	138660731	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:138660731C>T	uc011mdq.2	+	14	1532	c.1458C>T	c.(1456-1458)ccC>ccT	p.P486P	KCNT1_uc011mdr.2_Silent_p.P313P|KCNT1_uc010nbf.3_Silent_p.P441P|KCNT1_uc004cgo.1_Silent_p.P235P	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	486						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAACTGCCCCCTCTACGTCC	0.627000														30			5		0	0	0.00116845	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76532481	76532481	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:76532481T>C	uc002fex.1	+	13	2403	c.2264T>C	c.(2263-2265)tTg>tCg	p.L755S	CNTNAP4_uc002feu.1_Missense_Mutation_p.L751S|CNTNAP4_uc002fev.1_Missense_Mutation_p.L616S|CNTNAP4_uc010chb.1_Missense_Mutation_p.L679S	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	752	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GACACTGGATTGCTTGCTTAT	0.383000														48			11		0	0	0.000219431	0	0
TTN	7273	broad.mit.edu	37	2	179438423	179438423	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179438423G>A	uc021vsy.1	-	274	64957	c.64732C>T	c.(64732-64734)Cct>Tct	p.P21578S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P15273S|TTN_uc021vta.1_Missense_Mutation_p.P15206S|TTN_uc021vtb.1_Missense_Mutation_p.P15081S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22505	Fibronectin type-III 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGTGGAGGGAACCATGAT	0.438000														103			17		0	0	0.000422831	0	0
ARMC2	84071	broad.mit.edu	37	6	109286209	109286209	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:109286209G>C	uc003pss.4	+	16	2486	c.2312G>C	c.(2311-2313)gGt>gCt	p.G771A	ARMC2_uc011eao.2_Missense_Mutation_p.G606A	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	771							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGAGATTTGGGTCCTACTGAT	0.343000														151			63		0	0	0.000781405	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885107	24885107	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:24885107C>T	uc001wpf.4	+	8	4470	c.4152C>T	c.(4150-4152)ctC>ctT	p.L1384L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1384					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCTTCAGCCTCCTGTGGGAGC	0.627000														59			20		0	0	0.000958276	0	0
MTUS2	23281	broad.mit.edu	37	13	29599311	29599311	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:29599311C>T	uc001usl.4	+	0	564	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	159						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.L169L(2)|p.R168W(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGGCATGTTCCCAAGGATAAA	0.507000														73			21		0	0	0.000586117	0	0
KLB	152831	broad.mit.edu	37	4	39439522	39439522	+	Silent	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:39439522A>G	uc003gua.3	+	2	1609	c.1512A>G	c.(1510-1512)cgA>cgG	p.R504R	KLB_uc011byj.2_Silent_p.R504R	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	504	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGATCATACGAGAAAATGGTT	0.428000														41			13		0	0	0.000219431	0	0
DOCK4	9732	broad.mit.edu	37	7	111430623	111430623	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:111430623G>A	uc003vfy.3	-	31	3582	c.3313C>T	c.(3313-3315)Ccc>Tcc	p.P1105S	DOCK4_uc011kmm.2_5'Flank|DOCK4_uc003vfw.3_Missense_Mutation_p.P510S|DOCK4_uc003vfx.3_Missense_Mutation_p.P1069S	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1069	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCTAGGAAGGGGCCAATCAGG	0.398000														28			5		0	0	8.12818e-05	0	0
TBL1X	6907	broad.mit.edu	37	X	9622287	9622287	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:9622287C>T	uc004csr.3	+	4	623	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	TBL1X_uc004csq.4_5'UTR|TBL1X_uc010ndr.3_5'UTR|TBL1X_uc010ndq.3_Missense_Mutation_p.P46S	NM_005647	NP_001132940	O60907	TBL1X_HUMAN	Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.	46					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CACCTCATCGCCGCGAGGTGA	0.443000														56			20		0	0	0.000958276	0	0
FSD1	79187	broad.mit.edu	37	19	4323568	4323568	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:4323568G>A	uc002lzy.2	+	12	1572	c.1419G>A	c.(1417-1419)caG>caA	p.Q473Q	FSD1_uc002maa.2_Silent_p.Q286Q	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	473	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGCCTGCAGGTCCCCAGTG	0.677000														25			5		0	0	0.00116845	0	0
ARID3C	138715	broad.mit.edu	37	9	34621491	34621491	+	Silent	SNP	T	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:34621491T>G	uc011lon.2	-	6	1203	c.1203A>C	c.(1201-1203)ccA>ccC	p.P401P	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	401	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTGTGGAGGGTGGGGGTGCAG	0.617000														40			6		0	0	0.000157383	0	0
SELP	6403	broad.mit.edu	37	1	169564052	169564052	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:169564052C>T	uc001ggi.4	-	12	2230	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	SELP_uc001ggh.3_Missense_Mutation_p.G557E|SELP_uc009wvr.3_Missense_Mutation_p.G722E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	722	Sushi 9.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ACTGAAGTTTCCCCAGAGGTT	0.433000														11			14		0	0	0.000219431	0	0
TTC21A	199223	broad.mit.edu	37	3	39150695	39150695	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:39150695C>T	uc003cjc.2	+	1	324	c.147C>T	c.(145-147)gtC>gtT	p.V49V	GORASP1_uc003civ.1_5'Flank|GORASP1_uc003ciw.1_5'Flank|GORASP1_uc003cix.1_5'Flank|GORASP1_uc003ciy.1_5'Flank|GORASP1_uc011ayw.1_5'Flank|GORASP1_uc003ciz.1_5'Flank|TTC21A_uc003cja.3_Silent_p.V49V|TTC21A_uc010hho.2_Silent_p.V49V|TTC21A_uc003cjb.3_Silent_p.V49V|TTC21A_uc011ayx.1_Silent_p.V49V|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	49							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTATGGAGTCCTCAAAGAAG	0.517000														40			14		0	0	0.000151284	0	0
CPNE7	27132	broad.mit.edu	37	16	89662951	89662951	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:89662951G>A	uc002fnp.3	+	16	1954	c.1824G>A	c.(1822-1824)gaG>gaA	p.E608E	CPNE7_uc002fnq.3_Silent_p.E533E	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	608					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		AGGTGGTGGAGTACTACAGCC	0.667000														38			17		0	0	0.00074312	0	0
ARID2	196528	broad.mit.edu	37	12	46230571	46230571	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:46230571C>T	uc001ros.1	+	7	820	c.820C>T	c.(820-822)Cga>Tga	p.R274*	ARID2_uc001ror.3_Nonsense_Mutation_p.R274*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	274					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCATCCACCTCGAAAGCTGGG	0.363000			"""N, S, F"""		hepatocellular carcinoma									61			13		0	0	0.000151284	0	0
FOXR2	139628	broad.mit.edu	37	X	55650610	55650610	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:55650610G>A	uc004duo.3	+	0	778	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	156					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TGAGCTCACAGAAGAGGAGGC	0.498000														17			4		0	0	0.00024832	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631291	51631291	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:51631291C>T	uc010yct.2	+	4	1196	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	SIGLEC9_uc002pvu.3_Silent_p.F367F	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	367					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCGTCATCTTCGTTGTGTAAG	0.612000														100			54		0	0	0.000781405	0	0
SKAP1	8631	broad.mit.edu	37	17	46239846	46239846	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:46239846G>A	uc002ini.1	-	10	1075	c.963C>T	c.(961-963)atC>atT	p.I321I	SKAP1_uc002inj.1_Silent_p.I320I|SKAP1_uc010dbd.1_Silent_p.I226I|SKAP1_uc010dbe.1_Silent_p.I321I	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	321	SH3.				T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TCAGAATACGGATGAGGTCAC	0.438000														36			10		0	0	0.000978159	0	0
CUX2	23316	broad.mit.edu	37	12	111779730	111779730	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:111779730G>A	uc001tsa.2	+	20	3686	c.3532G>A	c.(3532-3534)Gag>Aag	p.E1178K		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1178						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCTGGCACCCGAGGAGAAGGA	0.652000														52			12		0	0	0.000219431	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411075	32411075	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:32411075C>T	uc003obh.3	+	2	551	c.442C>T	c.(442-444)Cga>Tga	p.R148*	HLA-DRA_uc003obi.3_Nonsense_Mutation_p.R123*	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	148	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity	p.R148Q(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CACGTGGCTTCGAAATGGAAA	0.527000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					88			18		0	0	0.000566183	0	0
FLT4	2324	broad.mit.edu	37	5	180058777	180058777	+	Splice_Site	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:180058777G>C	uc003mlz.4	-	2	138	c.59_splice	c.e2-1	p.G20_splice	FLT4_uc003mma.4_Splice_Site_p.G20_splice|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Splice_Site_p.G20_splice|FLT4_uc011dgz.1_Splice_Site_p.G20_splice|FLT4_uc011dha.1_Splice_Site_p.G20_splice	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	20					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CACTCACCAGGCCTGGGGTGG	0.622000														20			3		0	0	6.4e-05	0	0
PCLO	27445	broad.mit.edu	37	7	82581191	82581191	+	Silent	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:82581191A>G	uc003uhx.2	-	4	9367	c.9078T>C	c.(9076-9078)acT>acC	p.T3026T	PCLO_uc003uhv.2_Silent_p.T3026T|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2957					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCTCCCTGAAGTCAGATCTA	0.388000														42			8		0	0	0.000157383	0	0
GRIA2	2891	broad.mit.edu	37	4	158254046	158254046	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:158254046G>A	uc003ipm.4	+	6	1417	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	GRIA2_uc011cit.2_Missense_Mutation_p.E273K|GRIA2_uc003ipl.4_Missense_Mutation_p.E320K|GRIA2_uc003ipk.4_Missense_Mutation_p.E273K|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	320					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E320Q(3)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GCAAAGAATTGAAATCTCCCG	0.483000														21			7		0	0	8.12818e-05	0	0
TAF1A	9015	broad.mit.edu	37	1	222750876	222750876	+	Missense_Mutation	SNP	C	A	A	rs145721552	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:222750876C>A	uc009xdz.2	-	4	724	c.515G>T	c.(514-516)cGg>cTg	p.R172L	TAF1A_uc001hni.2_Missense_Mutation_p.R58L|TAF1A_uc001hnj.3_Missense_Mutation_p.R172L|TAF1A_uc010pur.2_Missense_Mutation_p.R172L	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	172					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.R172R(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TAATATTTCCCGGGAAGACGT	0.383000														538			11		0.00010058	0.000865966	0.00010058	1	0
SERPINF2	5345	broad.mit.edu	37	17	1649093	1649093	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:1649093T>C	uc002ftk.1	+	4	334	c.257T>C	c.(256-258)aTg>aCg	p.M86T	SERPINF2_uc010vqr.1_Intron|SERPINF2_uc021tnm.1_Missense_Mutation_p.M86T	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	86					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GCCCGGGCCATGATGGCCTTC	0.657000														39			15		0	0	0.000422831	0	0
ABCA12	26154	broad.mit.edu	37	2	215866398	215866398	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:215866398G>T	uc002vew.3	-	20	2967	c.2747C>A	c.(2746-2748)tCc>tAc	p.S916Y	ABCA12_uc002vev.3_Missense_Mutation_p.S598Y|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	916					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TACTGTCAGGGAAGATAGTGT	0.348000														51			32		6.04164e-23	5.30981e-22	0.000339439	1	0
CHD7	55636	broad.mit.edu	37	8	61654698	61654698	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:61654698C>T	uc003xue.3	+	1	1199	c.707C>T	c.(706-708)tCc>tTc	p.S236F	CHD7_uc022aux.1_Missense_Mutation_p.S236F	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	236					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGCCACTTGTCCCACGTGCCC	0.572000														57			17		0	0	0.000175454	0	0
MECR	51102	broad.mit.edu	37	1	29542575	29542575	+	Silent	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:29542575G>C	uc001brq.1	-	2	384	c.348C>G	c.(346-348)ggC>ggG	p.G116G	MECR_uc001brp.1_Silent_p.G40G|MECR_uc001brt.1_Silent_p.G40G|MECR_uc010ofz.1_Silent_p.G116G	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	116					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding	p.G116G(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TCACATTGCTGCCCACCGCTA	0.532000														60			11		0	0	0.000219431	0	0
BASP1	10409	broad.mit.edu	37	5	17275434	17275434	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:17275434C>T	uc003jfx.3	+	1	288	c.109C>T	c.(109-111)Ccg>Tcg	p.P37S	BASP1_uc021xws.1_Missense_Mutation_p.P37S	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	37					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						GGAGGGGACCCCGAAGGAGAG	0.642000														12			6		0	0	0.000274275	0	0
CYP24A1	1591	broad.mit.edu	37	20	52774016	52774016	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:52774016G>A	uc002xwv.2	-	9	1743	c.1345C>T	c.(1345-1347)Cct>Tct	p.P449S	CYP24A1_uc002xwu.1_Missense_Mutation_p.P307S|CYP24A1_uc002xww.2_Intron	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	449					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TGCGCAAAAGGATTAATTTTT	0.418000														54			19		0	0	0.00121646	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567778	140567778	+	Missense_Mutation	SNP	C	A	A	rs138983173	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140567778C>A	uc003liw.1	+	0	886	c.886C>A	c.(886-888)Cct>Act	p.P296T		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	296	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAATCAATCCTTTTTCTGG	0.368000														17			7		2.0095e-06	1.73996e-05	8.12818e-05	1	0
LTF	4057	broad.mit.edu	37	3	46490500	46490500	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:46490500C>T	uc003cpq.3	-	8	1307	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	LTF_uc003fzr.3_Missense_Mutation_p.E312K|LTF_uc010hjh.3_Missense_Mutation_p.E356K|LTF_uc003cpr.3_Missense_Mutation_p.E343K	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	356					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCAGCCACTTCCTCCTCACCT	0.662000														25			6		0	0	8.12818e-05	0	0
KSR2	283455	broad.mit.edu	37	12	117962863	117962863	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:117962863G>A	uc001two.2	-	13	1981	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	671					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTTTCCAATGAGCTCGCCGA	0.622000														33			8		0	0	0.000274275	0	0
EPPK1	83481	broad.mit.edu	37	8	144941965	144941965	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:144941965G>A	uc003zaa.1	-	0	5470	c.5457C>T	c.(5455-5457)gcC>gcT	p.A1819A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1819						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCACTCTGGGCTCCATACT	0.547000														82			79		0	0	0.000781405	0	0
GRIN3A	116443	broad.mit.edu	37	9	104340058	104340058	+	Silent	SNP	C	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:104340058C>A	uc004bbp.2	-	7	3601	c.3000G>T	c.(2998-3000)gtG>gtT	p.V1000V	GRIN3A_uc004bbo.2_Silent_p.V75V|GRIN3A_uc004bbq.1_Silent_p.V1000V	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	1000					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACCTCTTTTCCACACGTTTGG	0.343000														73			21		5.26018e-13	4.59647e-12	0.000229342	1	0
LRRC26	389816	broad.mit.edu	37	9	140063403	140063403	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:140063403C>G	uc004clp.2	-	1	1004	c.908G>C	c.(907-909)cGc>cCc	p.R303P		NM_001013653	NP_001013675	Q2I0M4	LRC26_HUMAN	Homo sapiens leucine rich repeat containing 26 (LRRC26), mRNA.	303						cytoplasm|cytoskeleton|voltage-gated potassium channel complex	ion channel activity|potassium channel regulator activity|protein binding					all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TCTcggcgggcggagggcggc	0.796000														0			3		0	0	0.000602214	0	0
VAT1L	57687	broad.mit.edu	37	16	78005767	78005767	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:78005767G>A	uc002ffg.1	+	7	1195	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	366							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CCATGCAGCGGATTCACGACC	0.517000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		206			64		0	0	0.000781405	0	0
RXFP1	59350	broad.mit.edu	37	4	159560435	159560435	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:159560435C>T	uc003ipz.3	+	13	1330	c.1067C>T	c.(1066-1068)tCa>tTa	p.S356L	RXFP1_uc010iqj.2_Missense_Mutation_p.S185L|RXFP1_uc010iqk.3_Missense_Mutation_p.S224L|RXFP1_uc011cja.2_Missense_Mutation_p.S251L|RXFP1_uc010iqo.3_Missense_Mutation_p.S308L|RXFP1_uc011cjb.2_Missense_Mutation_p.S254L|RXFP1_uc011cjc.2_Missense_Mutation_p.S275L|RXFP1_uc011cjd.2_Missense_Mutation_p.S275L|RXFP1_uc010iql.3_Missense_Mutation_p.S200L|RXFP1_uc011cje.2_Missense_Mutation_p.S383L|RXFP1_uc010iqm.3_Missense_Mutation_p.S323L|RXFP1_uc011cjf.2_Missense_Mutation_p.S225L|RXFP1_uc010iqn.3_Missense_Mutation_p.S301L	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	356						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATTGAAATTTCAAATATCCAA	0.284000														49			8		0	0	0.000274275	0	0
FAM72B	653820	broad.mit.edu	37	1	120845996	120845997	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:120845996_120845997GG>TT	uc009whp.3	+	2	1061_1062	c.232_233GG>TT	c.(232-234)ggg>TTg	p.G78L	FAM72B_uc001ein.4_Missense_Mutation_p.G38L	NM_001100910	NP_001094380	Q86X60	FA72B_HUMAN	Homo sapiens family with sequence similarity 72, member B (FAM72B), mRNA.	78								p.G78W(2)		large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTTTTCTAGTGGGAACATTGTA	0.351000														190			9		0	0	6.4e-05	0	0
FCAMR	83953	broad.mit.edu	37	1	207135760	207135760	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:207135760C>T	uc001hfa.4	-	4	950	c.450G>A	c.(448-450)tgG>tgA	p.W150*	FCAMR_uc001hfb.3_Nonsense_Mutation_p.W150*|FCAMR_uc009xca.2_Nonsense_Mutation_p.W150*|FCAMR_uc021pig.1_Nonsense_Mutation_p.W65*	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	105	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCTGGCAGATCCATCTTGGGG	0.567000														22			36		0	0	0.000374591	0	0
ABCC6	368	broad.mit.edu	37	16	16271311	16271311	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:16271311C>T	uc002den.4	-	18	2625	c.2588G>A	c.(2587-2589)gGa>gAa	p.G863E	ABCC6_uc010bvo.3_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	863					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CCTAGTACCTCCTTCTCCTCT	0.582000														68			14		0	0	0.000308642	0	0
MEGF6	1953	broad.mit.edu	37	1	3511917	3511917	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:3511917C>T	uc001akl.3	-	2	588	c.361G>A	c.(361-363)Gag>Aag	p.E121K		NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	121	EMI.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		AGGCAGCCCTCCTCGTCGGGC	0.667000														46			7		0	0	0.000274275	0	0
ZFAND6	54469	broad.mit.edu	37	15	80429862	80429862	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:80429862C>T	uc002bfe.2	+	6	941	c.519C>T	c.(517-519)caC>caT	p.H173H	ZFAND6_uc021srv.1_Silent_p.H135H|ZFAND6_uc021srw.1_Silent_p.H173H|ZFAND6_uc002bfg.2_Silent_p.H161H|ZFAND6_uc002bff.2_Silent_p.H173H|ZFAND6_uc021srx.1_Silent_p.H173H|ZFAND6_uc021sry.1_Silent_p.H173H|ZFAND6_uc002bfh.2_Silent_p.H173H|ZFAND6_uc002bfi.2_Silent_p.H173H	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	Homo sapiens zinc finger, AN1-type domain 6 (ZFAND6), transcript variant 1, mRNA.	173							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GTGGTGTACACCGTTACTCAG	0.383000														50			16		0	0	0.000422831	0	0
GBA3	57733	broad.mit.edu	37	4	22749499	22749499	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:22749499C>T	uc003gqp.4	+	2	958	c.867C>T	c.(865-867)ttC>ttT	p.F289F	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Silent_p.F290F	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	289					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTCCAGAATTCACTGAAGAAG	0.403000														15			5		0	0	0.00116845	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43800282	43800282	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr21:43800282T>C	uc002zbb.2	-	9	1193	c.992A>G	c.(991-993)aAc>aGc	p.N331S	TMPRSS3_uc002zay.2_Missense_Mutation_p.N89S|TMPRSS3_uc002zaz.2_Missense_Mutation_p.N204S|TMPRSS3_uc002zba.2_Missense_Mutation_p.N204S|TMPRSS3_uc002zbc.2_Missense_Mutation_p.N331S	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	331	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ATCGGGGAAGTTCTCTTCAGA	0.522000														18			12		0	0	0.000308642	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389870	77389870	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:77389870G>A	uc002ffc.4	-	8	1846	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	ADAMTS18_uc010chc.1_Missense_Mutation_p.S64F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S172F|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	476	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCGGCTGCAGGAAGACCATGA	0.483000														66			10		0	0	0.000442599	0	0
FZD8	8325	broad.mit.edu	37	10	35929461	35929461	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:35929461G>A	uc001iyz.1	-	0	902	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	299					T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGTCGATAAGGAAGGTGGAGA	0.612000														14			9		0	0	0.000151284	0	0
TRIM33	51592	broad.mit.edu	37	1	114952902	114952902	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:114952902G>A	uc001eew.3	-	11	2182	c.2098C>T	c.(2098-2100)Cta>Tta	p.L700L	TRIM33_uc010owr.2_Silent_p.L314L|TRIM33_uc010ows.2_Silent_p.L332L|TRIM33_uc001eex.3_Silent_p.L700L	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	700					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATCTACTTAGTAGATTATCT	0.413000			T	RET	papillary thyroid									43			16		0	0	0.000566183	0	0
IGSF10	285313	broad.mit.edu	37	3	151166395	151166395	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:151166395G>A	uc011bod.2	-	3	1374	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	458					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)			TTGGTAAAGTGATTTGAGCAT	0.423000														70			22		0	0	0.000295444	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168486	142168486	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:142168486G>A	uc011kry.1	-	1	403	c.237C>T	c.(235-237)ttC>ttT	p.F79F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		ATCTAGGAGGGAAGTTTCCTC	0.527000														80			20		0	0	0.000295444	0	0
LOC401242	401242	broad.mit.edu	37	6	28829563	28829563	+	RNA	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:28829563C>T	uc003nlq.2	-	1		c.624G>A								Homo sapiens uncharacterized LOC401242 (LOC401242), non-coding RNA.																		TCATCCTCTTCCCCAGAAAGC	0.542000														3			3		0	0	6.4e-05	0	0
FARS2	10667	broad.mit.edu	37	6	5613428	5613428	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:5613428C>T	uc010jnv.1	+	5	1428	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	FARS2_uc003mwr.2_Silent_p.I364I	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	364	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CGGCTGTGATCAATGATATTT	0.353000														90			14		0	0	0.000422831	0	0
CCL11	6356	broad.mit.edu	37	17	32614124	32614124	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:32614124C>A	uc002hia.1	+	1	227	c.86C>A	c.(85-87)cCa>cAa	p.P29Q		NM_002986	NP_002977	P51671	CCL11_HUMAN	Homo sapiens chemokine (C-C motif) ligand 11 (CCL11), mRNA.	29					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GCTTCTGTCCCAACCACCTGC	0.433000														47			5		5.18039e-06	4.48045e-05	0.000157383	1	0
MEPE	56955	broad.mit.edu	37	4	88766238	88766239	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:88766238_88766239CC>TA	uc021xpx.1	+	3	323_324	c.311_312CC>TA	c.(310-312)tcc>tTA	p.S104L	MEPE_uc021xpu.1_Missense_Mutation_p.S73L|MEPE_uc021xpv.1_5'UTR|MEPE_uc021xpw.1_5'UTR|MEPE_uc010ikn.3_5'UTR|MEPE_uc003hqy.3_Missense_Mutation_p.S73L|MEPE_uc021xpy.1_5'Flank	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	73					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAAGATTTGTCCCTTTCTGAAG	0.312000														39			14		0	0	6.4e-05	0	0
NIPAL4	348938	broad.mit.edu	37	5	156890327	156890327	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:156890327G>A	uc003lwx.4	+	1	565	c.449G>A	c.(448-450)gGa>gAa	p.G150E	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.G150E|NIPAL4_uc010jin.1_Missense_Mutation_p.E85K	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	150						integral to membrane	receptor activity	p.G88A(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GTGGCCACGGGAGCCACTCGA	0.612000														27			4		0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179481477	179481477	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179481477C>T	uc021vsy.1	-	204	40660	c.40435G>A	c.(40435-40437)Gaa>Aaa	p.E13479K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E7174K|TTN_uc021vta.1_Missense_Mutation_p.E7107K|TTN_uc021vtb.1_Missense_Mutation_p.E6982K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14406	Ig-like 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATCAATTTCCCCAGAAATT	0.358000														51			9		0	0	0.000442599	0	0
FLJ43860	389690	broad.mit.edu	37	8	142506556	142506556	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:142506556C>T	uc003ywi.2	-	1	207	c.126G>A	c.(124-126)atG>atA	p.M42I	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	42							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGTGTACCTTCATGCAAGATG	0.567000														25			18		0	0	0.000566183	0	0
LRP2	4036	broad.mit.edu	37	2	170088331	170088331	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:170088331G>A	uc002ues.3	-	30	5333	c.5120C>T	c.(5119-5121)tCc>tTc	p.S1707F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1707	EGF-like 7.				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)	GCTGCAGCGGGAAAAGGCACA	0.473000														17			12		0	0	0.000978159	0	0
TBX5	6910	broad.mit.edu	37	12	114793661	114793661	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:114793661G>A	uc001tvo.3	-	8	1728	c.1233C>T	c.(1231-1233)acC>acT	p.T411T	TBX5_uc001tvp.3_Silent_p.T411T|TBX5_uc001tvq.3_Silent_p.T361T	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	411					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CGGTGGTGACGGTGCAGCTGC	0.652000														42			12		0	0	0.00010058	0	0
FN1	2335	broad.mit.edu	37	2	216249597	216249597	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:216249597G>C	uc002vfa.3	-	28	4981	c.4715C>G	c.(4714-4716)aCt>aGt	p.T1572S	FN1_uc002vfc.3_Missense_Mutation_p.T1481S|FN1_uc002vfe.3_Missense_Mutation_p.T1481S|FN1_uc002vff.3_Missense_Mutation_p.T1481S|FN1_uc002vfg.3_Missense_Mutation_p.T1481S|FN1_uc002vfh.3_Missense_Mutation_p.T1481S|FN1_uc002vfi.3_Missense_Mutation_p.T1572S|FN1_uc002vfj.3_Missense_Mutation_p.T1572S|FN1_uc002vfb.3_Missense_Mutation_p.T1481S|FN1_uc002vez.3_5'UTR|FN1_uc010zjp.2_Missense_Mutation_p.T199S|FN1_uc010fvc.1_5'Flank|FN1_uc010fvd.1_5'Flank	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1575	Fibronectin type-III 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCCGTAAGTGATCCTGTA	0.458000														66			4		0	0	0.000602214	0	0
SVIL	6840	broad.mit.edu	37	10	29812462	29812462	+	Silent	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:29812462T>C	uc001iut.1	-	14	3834	c.3081A>G	c.(3079-3081)ggA>ggG	p.G1027G	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Silent_p.G601G	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1027					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGTCCAAGTTTCCTTGTGCAT	0.507000														50			20		0	0	0.000229342	0	0
PPM1B	5495	broad.mit.edu	37	2	44428714	44428715	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:44428714_44428715GG>TT	uc002rtt.3	+	1	804_805	c.376_377GG>TT	c.(376-378)ggg>TTg	p.G126L	PPM1B_uc002rts.3_Missense_Mutation_p.G126L|PPM1B_uc002rtu.3_Missense_Mutation_p.G126L|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.G126L|PPM1B_uc002rtx.3_Missense_Mutation_p.G126L	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	126					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCTCAGAAACGGGATGGACAGG	0.391000														669			23		0	0	6.4e-05	0	0
AKR1B10	57016	broad.mit.edu	37	7	134221899	134221899	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:134221899G>A	uc003vrr.3	+	5	969	c.649G>A	c.(649-651)Gat>Aat	p.D217N		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	217					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGGCTCTCCGGATAGACCTTG	0.473000														10			6		0	0	0.000978159	0	0
EVC	2121	broad.mit.edu	37	4	5721001	5721001	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:5721001G>C	uc003gil.1	+	1	385	c.201G>C	c.(199-201)aaG>aaC	p.K67N	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	67					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATCTGCTCAAGAATTTGGAGT	0.517000														127			20		0	0	0.000229342	0	0
GSPT1	2935	broad.mit.edu	37	16	11970009	11970009	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:11970009G>A	uc010bux.3	-	12	1895	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	GSPT1_uc002dbu.3_Silent_p.S541S|GSPT1_uc002dbt.3_Silent_p.S542S	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	Homo sapiens G1 to S phase transition 1 (GSPT1), transcript variant 3, mRNA.	404					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GGCAGATGATGGATTTGTGCT	0.353000														145			51		0	0	0.000781405	0	0
KDM4C	23081	broad.mit.edu	37	9	6984218	6984218	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:6984218G>T	uc003zkh.3	+	9	1748	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	KDM4C_uc010mhu.2_Nonsense_Mutation_p.E412*|KDM4C_uc011lmi.1_Nonsense_Mutation_p.E390*|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Nonsense_Mutation_p.E390*|KDM4C_uc011lmk.2_Nonsense_Mutation_p.E209*|KDM4C_uc011lml.2_Nonsense_Mutation_p.E77*	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	390					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TGAGGAAGAGGAAGTGTCAGA	0.512000														51			17		2.48551e-13	2.17689e-12	0.000566183	1	0
TCERG1	10915	broad.mit.edu	37	5	145872509	145872509	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:145872509G>A	uc003lob.3	+	14	2179	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	TCERG1_uc003loc.3_Silent_p.R692R	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	713					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAGACCAGGGCAGAGGAAG	0.313000														26			4		0	0	0.00024832	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740865	140740865	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140740865G>A	uc003ljs.2	+	0	1163	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.G388E	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	391	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTGTTGGGAAATGCCAAG	0.468000														94			14		0	0	0.000151284	0	0
CPT1A	1374	broad.mit.edu	37	11	68542792	68542792	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:68542792G>A	uc001oog.4	-	12	1737	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	CPT1A_uc001oof.4_Missense_Mutation_p.P523S	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	523					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ACTTCCCCCGGGATGTCCCAC	0.522000														80			22		0	0	0.000878237	0	0
EPHA1	2041	broad.mit.edu	37	7	143095466	143095466	+	Missense_Mutation	SNP	C	T	T	rs143535859	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:143095466C>T	uc003wcz.3	-	6	1499	c.1412G>A	c.(1411-1413)cGg>cAg	p.R471Q		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	471	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S470S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTTCGGGGCCGGGACCCCGC	0.602000														38			15		0	0	0.000219431	0	0
KSR2	283455	broad.mit.edu	37	12	118198893	118198894	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:118198893_118198894CG>AT	uc001two.2	-	3	876_877	c.821_822CG>AT	c.(820-822)ccg>cAT	p.P274H		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	303	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGTGAATCCCGGGATCAAGTG	0.663000														164			7		0	0	6.4e-05	0	0
TRPV6	55503	broad.mit.edu	37	7	142571240	142571240	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:142571240C>G	uc003wbx.2	-	12	1978	c.1749G>C	c.(1747-1749)tgG>tgC	p.W583C	TRPV6_uc003wbw.1_Missense_Mutation_p.W369C|TRPV6_uc010lou.1_Missense_Mutation_p.W454C	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	583					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGGCCACTCGCCAGTGAGTGT	0.597000														72			24		0	0	0.00047179	0	0
COA5	493753	broad.mit.edu	37	2	99220599	99220599	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:99220599T>C	uc002syz.3	-	1	268	c.155A>G	c.(154-156)tAc>tGc	p.Y52C		NM_001008215	NP_001008216	Q86WW8	COA5_HUMAN	Homo sapiens cytochrome C oxidase assembly factor 5 (COA5), mRNA.	52																	AAAAAATGCGTACTTCAAAGA	0.333000														79			33		0	0	0.000953801	0	0
SALL4	57167	broad.mit.edu	37	20	50408030	50408030	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:50408030G>A	uc002xwh.4	-	1	1093	c.992C>T	c.(991-993)cCg>cTg	p.P331L	SALL4_uc010gii.3_Missense_Mutation_p.P331L|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	331					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAAAGCGCTCGGGAGGCGGGA	0.642000														25			6		0	0	8.12818e-05	0	0
LMF1	64788	broad.mit.edu	37	16	920852	920852	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:920852G>A	uc021tae.1	-	7	1113	c.1109C>T	c.(1108-1110)tCg>tTg	p.S370L	LMF1_uc010brg.2_5'Flank|LMF1_uc010uuu.2_Missense_Mutation_p.S153L|LMF1_uc021tad.1_Missense_Mutation_p.S201L|LMF1_uc010bri.2_Missense_Mutation_p.S133L|LMF1_uc002ckk.2_Missense_Mutation_p.S153L	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	370						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GACGCCCAGCGAGACGTTGGC	0.657000														14			6		0	0	0.00116845	0	0
GGA2	23062	broad.mit.edu	37	16	23504758	23504759	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:23504758_23504759GG>AT	uc002dlq.3	-	3	356_357	c.273_274CC>AT	c.(271-276)aaccac>aaATac	p.91_92NH>KY	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	91	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TCCCCACAGTGGTTCATGCACA	0.559000														27			9		0	0	6.4e-05	0	0
abParts	0	broad.mit.edu	37	22	22673458	22673458	+	RNA	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:22673458C>T	uc021wml.1	+	34		c.3122C>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TCTGGAGTTCCCAGCCGCTTC	0.537000														62			27		0	0	0.000878237	0	0
CCBE1	147372	broad.mit.edu	37	18	57147471	57147471	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:57147471C>T	uc002lib.3	-	3	283	c.213_splice	c.e3-1	p.R71_splice		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	71					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GCACTTTTTCCTAAGAGACAA	0.284000														32			17		0	0	0.000958276	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471470	146471470	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:146471470G>A	uc003weu.2	+	1	721	c.205G>A	c.(205-207)Gga>Aga	p.G69R		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	69	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R68I(1)|p.G69E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AAACAAGAGAGGAGGTAAGCC	0.388000										HNSCC(39;0.1)				35			12		0	0	0.00010058	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74211427	74211427	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:74211427G>A	uc003ubd.1	-	15	2608	c.2424C>T	c.(2422-2424)acC>acT	p.T808T	GTF2IRD2_uc010lbt.1_Silent_p.T355T	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	808					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						ccaatttcagggtgggaaagt	0.478000														149			50		0	0	0.000781405	0	0
F8	2157	broad.mit.edu	37	X	154157307	154157308	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:154157307_154157308CC>AA	uc004fmt.3	-	13	4928_4929	c.4757_4758GG>TT	c.(4756-4758)tgg>tTT	p.W1586F		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1586	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTGGTTATCCCAAGCAAGAGG	0.421000														208			7		0	0	6.4e-05	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376701	8376702	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:8376701_8376702CC>TT	uc001qui.2	-	4	792_793	c.233_234GG>AA	c.(232-234)ggg>gAA	p.G78E	FAM90A1_uc001quh.2_Missense_Mutation_p.G78E	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	78							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GGTTTTCCTTCCCTTCCTTTTC	0.550000														180			18		0	0	6.4e-05	0	0
MGAT2	4247	broad.mit.edu	37	14	50089148	50089149	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:50089148_50089149CC>TT	uc001wwr.3	+	0	1660_1661	c.1162_1163CC>TT	c.(1162-1164)cca>TTa	p.P388L	NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA.	388					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					AACCTGTAGACCATCCACTCAG	0.391000														65			12		0	0	6.4e-05	0	0
CHRD	8646	broad.mit.edu	37	3	184104890	184104890	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:184104890G>A	uc003fov.3	+	17	2588	c.2342G>A	c.(2341-2343)gGa>gAa	p.G781E	CHRD_uc003fow.3_Missense_Mutation_p.G411E|CHRD_uc003fox.3_Missense_Mutation_p.G781E|CHRD_uc003foy.3_Missense_Mutation_p.G411E|CHRD_uc010hyc.3_Missense_Mutation_p.G371E|CHRD_uc011brr.2_Missense_Mutation_p.G323E	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	781					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.G781E(2)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGGGACCCAGGAGAGGGTGAG	0.582000														50			18		0	0	0.000175454	0	0
ROBO4	54538	broad.mit.edu	37	11	124765755	124765755	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:124765755C>T	uc001qbg.3	-	4	873	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	ROBO4_uc010sas.2_Missense_Mutation_p.E100K|ROBO4_uc001qbh.2_Missense_Mutation_p.E135K|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	245					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTCACATTTTCCAGCTGAATT	0.597000														27			12		0	0	0.000978159	0	0
NLRP8	126205	broad.mit.edu	37	19	56459471	56459471	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:56459471C>T	uc002qmh.3	+	0	274	c.203C>T	c.(202-204)aCc>aTc	p.T68I	NLRP8_uc010etg.3_Missense_Mutation_p.T68I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	68	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGTACTGGCACCATGCCCATC	0.547000														20			12		0	0	0.000151284	0	0
LILRA5	353514	broad.mit.edu	37	19	54818743	54818743	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:54818743C>T	uc002qfe.3	-	6	975	c.855G>A	c.(853-855)caG>caA	p.Q285Q	LILRA5_uc002qff.3_Silent_p.Q273Q	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	285					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTGCCAATCCTGAAATATCA	0.527000														49			36		0	0	0.00058488	0	0
NVL	4931	broad.mit.edu	37	1	224482016	224482016	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:224482016G>A	uc001hok.3	-	11	1340	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	NVL_uc001hol.3_Silent_p.F320F|NVL_uc010pvd.2_Silent_p.F335F|NVL_uc010pve.2_Silent_p.F237F|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	426						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TTTCTCGGTCGAACCTTCCCG	0.448000														28			26		0	0	0.000720815	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468108	61468108	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:61468108G>A	uc002ljl.3	+	6	702	c.606G>A	c.(604-606)ggG>ggA	p.G202G	SERPINB7_uc002ljm.3_Silent_p.G202G|SERPINB7_uc010xet.2_Silent_p.G185G|SERPINB7_uc010dqg.3_Silent_p.G202G	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	202					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGTGCTCTGGGAAGGCAGTCG	0.363000														54			10		0	0	0.000673444	0	0
KLHL1	57626	broad.mit.edu	37	13	70371071	70371071	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:70371071C>T	uc001vip.3	-	6	2232	c.1438G>A	c.(1438-1440)Gat>Aat	p.D480N	KLHL1_uc010thm.2_Missense_Mutation_p.D419N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	480					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTTCTCAGATCATATTTCTCT	0.388000														100			22		0	0	0.000375601	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948513	82948513	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:82948513G>A	uc003kim.3	-	1	302	c.231C>T	c.(229-231)atC>atT	p.I77I	HAPLN1_uc003kin.3_Silent_p.I77I	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	77	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ACTTAATTCGGATTTTATGGA	0.433000														63			12		0	0	0.000151284	0	0
SUPT4H1	6827	broad.mit.edu	37	17	56423632	56423632	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:56423632G>A	uc002iwe.1	-	4	396	c.329C>T	c.(328-330)tCc>tTc	p.S110F	LOC100506779_uc021uan.1_Intron|LOC100506779_uc010dct.2_Intron|LOC100506779_uc010dcu.2_Intron|LOC100506779_uc021uao.1_Intron|LOC100506779_uc002ivz.3_Intron|LOC100506779_uc010dcv.2_Intron|LOC100506779_uc002iwa.3_Intron|LOC100506779_uc002iwb.3_Intron|LOC100506779_uc002iwc.3_Intron	NM_003168	NP_003159	P63272	SPT4H_HUMAN	Homo sapiens suppressor of Ty 4 homolog 1 (S. cerevisiae) (SUPT4H1), mRNA.	110				QGIVRELKSRGVAYKSRDTAIKT -> HAKDSRSNVNKYEP RESSEGHDTCLASLFHSLRHSNSLFAL (in Ref. 3; BAC85230).	chromatin remodeling|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|skin(2)	4	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGTCTCTGGATTTGTAGGC	0.468000														63			7		0	0	0.000274275	0	0
ADTRP	84830	broad.mit.edu	37	6	11735912	11735912	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:11735912G>A	uc011dip.2	-	4	737	c.449C>T	c.(448-450)aCt>aTt	p.T150I	ADTRP_uc003naa.3_Non-coding_Transcript|ADTRP_uc003nab.3_Missense_Mutation_p.T132I	NM_001143948	NP_001137420	Q96IZ2	CF105_HUMAN	Homo sapiens chromosome 6 open reading frame 105 (C6orf105), transcript variant 1, mRNA.	132						integral to membrane											GAATATGAAAGTGTGCTGCAG	0.512000														30			22		0	0	0.000295444	0	0
SLC39A12	221074	broad.mit.edu	37	10	18266932	18266932	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:18266932G>A	uc001ipo.2	+	4	1126	c.853G>A	c.(853-855)Gat>Aat	p.D285N	SLC39A12_uc001ipn.2_Missense_Mutation_p.D285N|SLC39A12_uc001ipp.2_Missense_Mutation_p.D285N|SLC39A12_uc010qck.1_Missense_Mutation_p.D151N	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	285					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AATAACCCATGATCAGGACTA	0.378000														64			18		0	0	0.000566183	0	0
TRIO	7204	broad.mit.edu	37	5	14394211	14394211	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:14394211G>A	uc003jff.3	+	27	4289	c.4283G>A	c.(4282-4284)cGa>cAa	p.R1428Q	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.R1379Q|TRIO_uc003jfh.1_Missense_Mutation_p.R1077Q	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1428	DH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCAGTTCAGCGAATAACGAAG	0.313000														72			17		0	0	0.00121646	0	0
PDZD2	23037	broad.mit.edu	37	5	32074135	32074135	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:32074135G>C	uc003jhl.3	+	17	3311	c.2923G>C	c.(2923-2925)Gag>Cag	p.E975Q	PDZD2_uc003jhm.3_Missense_Mutation_p.E975Q|PDZD2_uc011cnx.1_Missense_Mutation_p.E801Q	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	975					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGATGAGGAAGAGTTTGACAG	0.602000														45			4		0	0	0.00024832	0	0
FZD8	8325	broad.mit.edu	37	10	35930060	35930060	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:35930060A>T	uc001iyz.1	-	0	303	c.298T>A	c.(298-300)Tac>Aac	p.Y100N		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	100	FZ.				T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GGCTTCTTGTAGTCCTCTAGG	0.667000														26			10		0	0	0.000151284	0	0
NLRP5	126206	broad.mit.edu	37	19	56565173	56565173	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:56565173G>A	uc002qmj.3	+	13	3299	c.3299_splice	c.e13+1	p.G1100_splice	NLRP5_uc002qmi.3_Splice_Site_p.G1081_splice	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1100						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGCGAGACTCGGGTAACTTCC	0.602000														49			11		0	0	0.000308642	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19197496	19197496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:19197496C>T	uc001mpi.3	+	16	1963	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	ZDHHC13_uc001mpj.3_Missense_Mutation_p.R490C	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	620					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGGTTCTTCGCTCAGTATG	0.423000														128			33		0	0	0.000374591	0	0
ASTN2	23245	broad.mit.edu	37	9	119976717	119976717	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:119976717T>A	uc004bjt.2	-	2	1036	c.935A>T	c.(934-936)gAc>gTc	p.D312V	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	312						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCAAACTCGTCCTCGCGGGA	0.582000														49			6		0	0	8.12818e-05	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215343	140215343	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140215343G>A	uc003lhq.2	+	0	1375	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.E459K	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	473	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCAGCCCGAGTATACGGT	0.672000														44			26		0	0	0.000227799	0	0
KCNA4	3739	broad.mit.edu	37	11	30033883	30033883	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:30033883C>T	uc021qfi.1	-	0	343	c.343G>A	c.(343-345)Gag>Aag	p.E115K	KCNA4_uc001msk.3_Missense_Mutation_p.E115K	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	115						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGGATCTTCTCCTCAGAGCCA	0.552000														21			5		0	0	0.000602214	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323163	79323163	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:79323163C>T	uc010mpk.3	-	7	4151	c.4027G>A	c.(4027-4029)Gag>Aag	p.E1343K	PRUNE2_uc022bih.1_Missense_Mutation_p.E1165K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1343					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCGATCACCTCCTCTTCATCA	0.512000														41			17		0	0	0.000958276	0	0
MUC16	94025	broad.mit.edu	37	19	9065219	9065219	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:9065219G>A	uc002mkp.3	-	2	22431	c.22227C>T	c.(22225-22227)tcC>tcT	p.S7409S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7411	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTAATGTGGAAGAAACAG	0.522000														23			7		0	0	8.12818e-05	0	0
THOC2	57187	broad.mit.edu	37	X	122820484	122820484	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:122820484A>T	uc004etu.3	-	7	714	c.682T>A	c.(682-684)Ttt>Att	p.F228I	THOC2_uc011muh.1_Missense_Mutation_p.F149I|THOC2_uc011mui.1_Missense_Mutation_p.F113I	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	228					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAAGATATAAAGAAGTCATCG	0.368000														147			37		0	0	0.000814825	0	0
DGKB	1607	broad.mit.edu	37	7	14647102	14647102	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:14647102G>A	uc003ssz.3	-	15	1580	c.1393C>T	c.(1393-1395)Cct>Tct	p.P465S	DGKB_uc011jxt.2_Missense_Mutation_p.P446S|DGKB_uc003sta.3_Missense_Mutation_p.P465S|DGKB_uc011jxu.2_Missense_Mutation_p.P464S	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	465	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ACCTGACGAGGATTTAATAGA	0.279000														43			10		0	0	0.000151284	0	0
NRXN2	9379	broad.mit.edu	37	11	64417920	64417920	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:64417920C>T	uc021qkw.1	-	15	3571	c.3109_splice	c.e15+1	p.G1037_splice	NRXN2_uc021qkx.1_Splice_Site_p.G997_splice|NRXN2_uc001oas.3_Splice_Site_p.G997_splice|NRXN2_uc001oaq.3_Splice_Site_p.G704_splice	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1037	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCAGCCCCACCTTTGAGATCG	0.637000														59			22		0	0	0.000878237	0	0
ZNF577	84765	broad.mit.edu	37	19	52376878	52376878	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:52376878T>C	uc010yde.2	-	6	756	c.365A>G	c.(364-366)aAg>aGg	p.K122R	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Intron|ZNF577_uc002pxv.3_Missense_Mutation_p.K115R|ZNF577_uc002pxw.3_Intron	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTTGTCACGCTTGATATGGAG	0.393000														80			10		0	0	0.000442599	0	0
IPO9	55705	broad.mit.edu	37	1	201839936	201839936	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:201839936C>T	uc001gwz.3	+	17	2409	c.2359C>T	c.(2359-2361)Cgt>Tgt	p.R787C		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	787					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.R787H(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CCAGATTCTTCGTGCCATCCT	0.572000														35			35		0	0	0.000814825	0	0
DENND2C	163259	broad.mit.edu	37	1	115078822	115078822	+	RNA	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:115078822G>A	uc001eez.3	-	28		c.4821C>T				NM_198459		Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTCTGGAACGAATGTGGCTT	0.507000														21			8		0	0	0.000673444	0	0
KIF26B	55083	broad.mit.edu	37	1	245851523	245851523	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:245851523C>T	uc001ibf.1	+	11	5678	c.5238C>T	c.(5236-5238)cgC>cgT	p.R1746R	KIF26B_uc001ibg.1_Silent_p.R1364R|KIF26B_uc001ibh.1_Silent_p.R988R	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1746	Ser-rich.			R -> H (in Ref. 2; BAA91469).	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCAGAGCGCGCGGCCCGTCCG	0.736000														28			6		0	0	8.12818e-05	0	0
OR5F1	338674	broad.mit.edu	37	11	55761208	55761208	+	Silent	SNP	C	T	T	rs149961467		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:55761208C>T	uc010riv.2	-	0	894	c.894G>A	c.(892-894)aaG>aaA	p.K298K		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CTAAAGCCTTCTTTACTTCCT	0.403000														41			9		0	0	0.000442599	0	0
SYNJ1	8867	broad.mit.edu	37	21	34045783	34045783	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr21:34045783C>T	uc002yqh.2	-	13	1710	c.1710G>A	c.(1708-1710)aaG>aaA	p.K570K	SYNJ1_uc011ads.1_Silent_p.K526K|SYNJ1_uc002yqf.2_Silent_p.K531K|SYNJ1_uc002yqg.2_Silent_p.K526K|SYNJ1_uc002yqi.2_Silent_p.K570K	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	531	Catalytic (Potential).						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTCGAATTTTCTTAGGCTTTG	0.378000														13			11		0	0	0.000673444	0	0
HK3	3101	broad.mit.edu	37	5	176308425	176308425	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:176308425C>T	uc003mfa.3	-	17	2597	c.2505G>A	c.(2503-2505)agG>agA	p.R835R	HK3_uc003mez.3_Silent_p.R391R	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	835	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGGGCAGCCCTCTGGGACA	0.652000														23			7		0	0	0.000157383	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954580	12954580	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:12954580G>A	uc001auo.3	-	2	776	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	235										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAGTTCACGAAGATTGCTC	0.483000														65			29		0	0	0.00128727	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458707	120458708	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:120458707_120458708CC>AA	uc001eik.3	-	33	6934_6935	c.6637_6638GG>TT	c.(6637-6639)ggg>TTg	p.G2213L		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2213					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTGCTGGCCCCATGTGCCAAA	0.564000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					641			19		0	0	6.4e-05	0	0
SLC15A2	6565	broad.mit.edu	37	3	121616254	121616254	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:121616254C>T	uc003eep.2	+	2	366	c.213C>T	c.(211-213)ttC>ttT	p.F71F	SLC15A2_uc011bjn.1_Silent_p.F71F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	71					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCCTGTATTTCCTGTATTTCC	0.418000														113			35		0	0	0.000270559	0	0
PPM1L	151742	broad.mit.edu	37	3	160786714	160786714	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:160786714C>T	uc003fdr.3	+	3	953	c.852C>T	c.(850-852)atC>atT	p.I284I	PPM1L_uc003fds.3_Silent_p.I105I|PPM1L_uc003fdt.3_Silent_p.I157I|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	284	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACCCAGACATCCTGACCTTTG	0.517000														67			16		0	0	0.000958276	0	0
CLVS1	157807	broad.mit.edu	37	8	62366804	62366804	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:62366804G>A	uc003xuh.3	+	3	1059	c.735G>A	c.(733-735)agG>agA	p.R245R	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	245	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACAAGACCAGGAAACGGGTAA	0.458000														92			30		0	0	0.000339439	0	0
TMCO4	255104	broad.mit.edu	37	1	20072026	20072026	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:20072026G>A	uc001bcn.3	-	10	1119	c.877_splice	c.e10+1	p.R293_splice	TMCO4_uc001bco.1_Splice_Site_p.R293_splice|TMCO4_uc001bcp.1_Intron|TMCO4_uc009vpn.1_Silent_p.Y292Y|TMCO4_uc001bcq.1_Splice_Site	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	293						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGTCCTCACGGTATTTGCCAG	0.612000														92			20		0	0	0.000375601	0	0
TMEM37	140738	broad.mit.edu	37	2	120194936	120194936	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:120194936G>A	uc002tly.3	+	1	527	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	165						integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.C164C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GTTTTGGTGCGAATTCACTGC	0.552000														229			64		0	0	0.000781405	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033492	82033492	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:82033492C>T	uc002fgu.3	-	2	534	c.406G>A	c.(406-408)Ggg>Agg	p.G136R		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	136					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GATTCATCCCCATTTCTGATA	0.498000														60			14		0	0	0.000308642	0	0
NPR2	4882	broad.mit.edu	37	9	35806418	35806418	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:35806418T>C	uc003zyd.3	+	15	2402	c.2402T>C	c.(2401-2403)cTc>cCc	p.L801P	NPR2_uc010mlb.3_Missense_Mutation_p.L777P	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	801					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTGGACAACCTCCTGCTGCGC	0.532000														50			10		0	0	0.00010058	0	0
C9orf171	389799	broad.mit.edu	37	9	135374771	135374771	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:135374771G>C	uc004cbn.3	+	3	464	c.416G>C	c.(415-417)tGg>tCg	p.W139S	C9orf171_uc004cbo.3_Missense_Mutation_p.W103S	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	139										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						ATCGGACGCTGGAACGTGTTC	0.647000														35			11		0	0	0.000673444	0	0
OR8K5	219453	broad.mit.edu	37	11	55927748	55927748	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:55927748C>T	uc010rja.2	-	0	46	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CTTGTGAGTTCCATCAGAATG	0.438000														74			30		0	0	0.000409698	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093586	30093586	+	RNA	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:30093586C>T	uc010dmc.3	+	0		c.1961C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		GAGAGTACGTCGGGAGAATAA	0.493000														89			12		0	0	0.000151284	0	0
AMHR2	269	broad.mit.edu	37	12	53823689	53823689	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:53823689C>T	uc001scx.2	+	8	1295	c.1215C>T	c.(1213-1215)ctC>ctT	p.L405L	AMHR2_uc009zmy.2_Silent_p.L405L|AMHR2_uc021qyg.1_Intron	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	405	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCATGGCCCTCCGACGAGCTG	0.577000														45			13		0	0	0.00010058	0	0
MAN2A2	4122	broad.mit.edu	37	15	91453416	91453417	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:91453416_91453417GG>TT	uc010bnz.2	+	9	1586_1587	c.1471_1472GG>TT	c.(1471-1473)ggg>TTg	p.G491L	MAN2A2_uc010boa.3_Missense_Mutation_p.G533L|MAN2A2_uc002bqc.3_Missense_Mutation_p.G491L|MAN2A2_uc010uql.2_Intron|MAN2A2_uc010uqm.2_Intron|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	491					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGTGCTGAGCGGGGATTTCTTC	0.569000														466			12		0	0	6.4e-05	0	0
ROBO1	6091	broad.mit.edu	37	3	78676597	78676597	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:78676597G>A	uc003dqe.2	-	25	3957	c.3749C>T	c.(3748-3750)cCa>cTa	p.P1250L	ROBO1_uc003dqc.2_Missense_Mutation_p.P1150L|ROBO1_uc003dqd.2_Missense_Mutation_p.P1205L|ROBO1_uc003dqb.2_Missense_Mutation_p.P1211L|ROBO1_uc010hoh.2_Missense_Mutation_p.P442L|ROBO1_uc011bgl.1_Missense_Mutation_p.P822L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1250					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CACGGCAGCTGGAGAAGAAGC	0.557000														11			7		0	0	0.000157383	0	0
KCNT1	57582	broad.mit.edu	37	9	138683645	138683645	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:138683645G>A	uc011mdq.2	+	29	3579	c.3505G>A	c.(3505-3507)Gag>Aag	p.E1169K	KCNT1_uc011mdr.2_Missense_Mutation_p.E1017K|KCNT1_uc010nbf.3_Missense_Mutation_p.E1145K	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1169						membrane	binding|calcium-activated potassium channel activity	p.E1168D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTTTGCAGACGAGATGAACGA	0.642000														60			21		0	0	0.000295444	0	0
LTB4R	1241	broad.mit.edu	37	14	24785488	24785488	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:24785488C>G	uc001wou.3	+	1	963	c.631C>G	c.(631-633)Cgg>Ggg	p.R211G	LTB4R_uc001wos.3_Missense_Mutation_p.R211G|LTB4R_uc010alp.3_Missense_Mutation_p.R211G|LTB4R_uc021rrq.1_Missense_Mutation_p.R211G	NM_181657	NP_858043	Q15722	LT4R1_HUMAN	Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 1, mRNA.	211					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		GCTACAGGCCCGGCGCTTCCG	0.672000														34			8		0	0	0.000157383	0	0
FAM47B	170062	broad.mit.edu	37	X	34962878	34962878	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:34962878G>A	uc004ddi.2	+	0	1966	c.1930G>A	c.(1930-1932)Gaa>Aaa	p.E644K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	644										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGCATCAAAAGAAGATTAGAT	0.383000														96			30		0	0	0.000339439	0	0
GPX6	257202	broad.mit.edu	37	6	28472261	28472261	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:28472261C>T	uc021yrx.1	-	4	524	c.474G>A	c.(472-474)ccG>ccA	p.P158P	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	158					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GATCAGAGGTCGGAGGGCAGG	0.443000														40			23		0	0	0.000878237	0	0
PRF1	5551	broad.mit.edu	37	10	72357828	72357828	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:72357828C>T	uc009xqg.3	-	2	1810	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	PRF1_uc001jrf.4_Missense_Mutation_p.R550Q	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	550					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCCCACTCCGGTTTCCTGG	0.582000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					21			14		0	0	0.000308642	0	0
IMPG2	50939	broad.mit.edu	37	3	100963530	100963530	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:100963530C>T	uc003duq.2	-	12	1848	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	IMPG2_uc011bhe.2_Missense_Mutation_p.E412K	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	549					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCAGAGTCTTCCATGGATGGT	0.383000														53			14		0	0	0.000151284	0	0
KCNB2	9312	broad.mit.edu	37	8	73480163	73480163	+	Missense_Mutation	SNP	G	A	A	rs140028668		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:73480163G>A	uc003xzb.3	+	1	782	c.194G>A	c.(193-195)cGa>cAa	p.R65Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	65					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGGAAGCTTCGAGACTGCAAC	0.552000														97			6		0	0	8.12818e-05	0	0
MYNN	55892	broad.mit.edu	37	3	169497339	169497339	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:169497339A>T	uc003ffu.3	+	3	1546	c.1050A>T	c.(1048-1050)agA>agT	p.R350S	MYNN_uc011bpm.2_Missense_Mutation_p.R236S|MYNN_uc003fft.3_Missense_Mutation_p.R350S|MYNN_uc003ffv.3_Missense_Mutation_p.R77S|MYNN_uc010hwo.3_Missense_Mutation_p.R350S|MYNN_uc003ffw.1_Non-coding_Transcript	NM_001185118	NP_061127	Q9NPC7	MYNN_HUMAN	Homo sapiens myoneurin (MYNN), transcript variant 2, mRNA.	350						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CGCATGTAAGAACTCATACAG	0.388000														43			17		0	0	0.00074312	0	0
IDE	3416	broad.mit.edu	37	10	94294477	94294478	+	Nonsense_Mutation	DNP	CC	AA	AA	rs74593235		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:94294477_94294478CC>AA	uc001kia.3	-	2	424_425	c.348_349GG>TT	c.(346-351)ttggga>ttTTga	p.116_117LG>F*		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	116					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTTTGTTCCCAAAAAAAGCA	0.356000														483			12		0	0	6.4e-05	0	0
THSD7B	80731	broad.mit.edu	37	2	138417269	138417269	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:138417269C>T	uc002tva.1	+	23	4321	c.4321C>T	c.(4321-4323)Cgg>Tgg	p.R1441W	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCTGCCATTCGGCAGTGCAT	0.443000														7			6		0	0	0.000274275	0	0
ZNF142	7701	broad.mit.edu	37	2	219508822	219508822	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:219508822G>A	uc002vin.3	-	7	2853	c.2417C>T	c.(2416-2418)gCc>gTc	p.A806V	ZNF142_uc002vil.3_Missense_Mutation_p.A767V|ZNF142_uc010fvt.3_Missense_Mutation_p.A643V|ZNF142_uc002vim.3_Missense_Mutation_p.A643V	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	806					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCTCCTTAGGGCCTTGAGTAA	0.567000														167			51		0	0	0.000781405	0	0
TPR	7175	broad.mit.edu	37	1	186332521	186332521	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:186332521G>C	uc001grv.3	-	4	781	c.484C>G	c.(484-486)Ctt>Gtt	p.L162V	MIR548F1_uc021pgf.1_Intron|TPR_uc010pop.2_Missense_Mutation_p.L238V	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	162					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTAACTGAAGTTCACCCTTT	0.299000			T	NTRK1	papillary thyroid									44			5		0	0	0.00116845	0	0
OR51B4	79339	broad.mit.edu	37	11	5323122	5323122	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5323122C>T	uc010qza.2	-	0	55	c.55G>A	c.(55-57)Gag>Aag	p.E19K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAACTGCCTCTGAGCCCAAG	0.463000											OREG0003718	type=REGULATORY REGION|Gene=OR51B4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		80			24		0	0	0.000878237	0	0
RCAN1	1827	broad.mit.edu	37	21	35890514	35890515	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr21:35890514_35890515GG>TT	uc002yue.3	-	3	698_699	c.626_627CC>AA	c.(625-627)ccc>cAA	p.P209Q	RCAN1_uc002yuc.3_Missense_Mutation_p.P128Q|RCAN1_uc002yud.3_Missense_Mutation_p.P74Q|RCAN1_uc002yub.3_Missense_Mutation_p.P154Q	NM_004414	NP_004405	P53805	RCAN1_HUMAN	Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA.	209					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						CCACCACGCTGGGAGTGGTGTC	0.475000														352			9		0	0	6.4e-05	0	0
OR1J4	26219	broad.mit.edu	37	9	125282298	125282298	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:125282298G>A	uc011lyw.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ATAGCCTAAGGAACAGGGACA	0.458000														40			14		0	0	0.000422831	0	0
LOC649330	649330	broad.mit.edu	37	1	12908049	12908049	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:12908049C>T	uc010obf.2	-	1	320	c.94G>A	c.(94-96)Gat>Aat	p.D32N	LOC649330_uc009vno.2_Missense_Mutation_p.D32N	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	32							nucleic acid binding|nucleotide binding										GCCTCCACATCCGATTTCTTG	0.468000														100			13		0	0	0.00010058	0	0
ATXN7	6314	broad.mit.edu	37	3	63973764	63973764	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:63973764C>T	uc003dlv.3	+	8	1678	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	ATXN7_uc003dlw.4_Silent_p.V375V|ATXN7_uc021wzy.1_Silent_p.V375V|ATXN7_uc011bfn.2_Silent_p.V230V	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	375	SCA7.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.A374S(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GCAGGGCTGTCCAGGGTAGAA	0.433000														129			34		0	0	0.000814825	0	0
NWD1	284434	broad.mit.edu	37	19	16902224	16902224	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:16902224C>T	uc002neu.4	+	13	3426	c.3004C>T	c.(3004-3006)Cct>Tct	p.P1002S	NWD1_uc002net.4_Missense_Mutation_p.P867S|NWD1_uc002nev.4_Missense_Mutation_p.P796S|NWD1_uc021uqg.1_Missense_Mutation_p.P867S	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1002							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCCTCTGATCCTTGGATGTG	0.522000														71			24		0	0	0.000295444	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156715051	156715051	+	Nonsense_Mutation	SNP	T	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:156715051T>G	uc003ipc.3	+	5	706	c.539T>G	c.(538-540)tTa>tGa	p.L180*	GUCY1B3_uc011cio.2_Nonsense_Mutation_p.L202*|GUCY1B3_uc011cip.2_Nonsense_Mutation_p.L160*|GUCY1B3_uc003ipd.3_Nonsense_Mutation_p.L108*|GUCY1B3_uc010iqf.3_Nonsense_Mutation_p.L180*|GUCY1B3_uc010iqg.3_Nonsense_Mutation_p.L108*|GUCY1B3_uc011ciq.2_Nonsense_Mutation_p.L108*	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	180					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ACTCAATTTTTAATTGAAGAA	0.323000														61			5		0	0	0.000274275	0	0
UTRN	7402	broad.mit.edu	37	6	144759886	144759887	+	Missense_Mutation	DNP	AC	TT	TT	rs114118949	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:144759886_144759887AC>TT	uc003qkt.3	+	10	1339_1340	c.1247_1248AC>TT	c.(1246-1248)cac>cTT	p.H416L	UTRN_uc010khq.1_Missense_Mutation_p.H416L	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	416	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACAGGCTGCACGATGTGCTGA	0.520000														48			16		0	0	6.4e-05	0	0
C3orf72	401089	broad.mit.edu	37	3	138668406	138668406	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:138668406C>T	uc003esx.1	+	1	276	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	FOXL2_uc003esw.3_5'Flank|AK304483_uc011bmr.2_5'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.	49										large_intestine(1)|lung(3)	4						TGCGTGCACCCTGGGAAGGGC	0.532000														33			5		0	0	0.000602214	0	0
ITM2C	81618	broad.mit.edu	37	2	231742169	231742169	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:231742169G>A	uc002vqz.3	+	4	736	c.616G>A	c.(616-618)Gag>Aag	p.E206K	ITM2C_uc002vra.3_Missense_Mutation_p.E159K|ITM2C_uc002vrb.3_Missense_Mutation_p.E169K|ITM2C_uc002vrc.3_Missense_Mutation_p.E95K|ITM2C_uc002vrd.3_Missense_Mutation_p.E58K	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	206	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGTGGTCACGGAGCATGTCAG	0.627000														41			14		0	0	0.000219431	0	0
SMAP2	64744	broad.mit.edu	37	1	40881029	40881029	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:40881029C>T	uc001cfj.3	+	6	1072	c.657C>T	c.(655-657)tcC>tcT	p.S219S	SMAP2_uc010ojh.2_Silent_p.S219S|SMAP2_uc001cfk.3_Silent_p.S189S|SMAP2_uc021oma.1_Silent_p.S214S|SMAP2_uc010oji.2_Silent_p.S139S|SMAP2_uc010ojj.2_Silent_p.S35S	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	219	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			CTGTTCCATCCCCTTCTTCTT	0.448000														149			48		0	0	0.000781405	0	0
INSR	3643	broad.mit.edu	37	19	7166349	7166349	+	Silent	SNP	T	A	A	rs77792535	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:7166349T>A	uc002mgd.1	-	7	1786	c.1677A>T	c.(1675-1677)gtA>gtT	p.V559V	INSR_uc002mge.1_Silent_p.V559V|INSR_uc002mgf.3_Silent_p.V559V	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	559					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTCAATGTCTACCACCGTCC	0.552000														229			25		0	0	0.00106085	0	0
SLC4A1	6521	broad.mit.edu	37	17	42328615	42328615	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:42328615G>A	uc002igf.4	-	18	2716	c.2567C>T	c.(2566-2568)tCc>tTc	p.S856F	SLC4A1_uc021tyc.1_Missense_Mutation_p.S490F	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	856	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGGGCCAGGGAGGCCGGCGT	0.637000														18			5		0	0	0.00116845	0	0
AKAP9	10142	broad.mit.edu	37	7	91630784	91630784	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:91630784T>C	uc003ulg.3	+	7	1778	c.1553T>C	c.(1552-1554)cTa>cCa	p.L518P	AKAP9_uc003ule.2_Missense_Mutation_p.L530P|AKAP9_uc003ulf.3_Missense_Mutation_p.L518P|AKAP9_uc003uli.3_Missense_Mutation_p.L143P	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	530	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAACTAGGACTAATTTTAGAA	0.343000			T	BRAF	papillary thyroid									79			7		0	0	0.000157383	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72336880	72336880	+	RNA	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:72336880C>T	uc010lal.1	-	0		c.2776G>A								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		AATCCCACTTCCCCCGCTGTC	0.443000														45			20		0	0	0.00121646	0	0
CGNL1	84952	broad.mit.edu	37	15	57731026	57731026	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:57731026C>T	uc010bfw.3	+	2	1022	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	CGNL1_uc002aeg.3_Missense_Mutation_p.P277S	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	277	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGATGTTCTTCCCTTCCGGCG	0.612000														33			8		0	0	0.000274275	0	0
NEBL	10529	broad.mit.edu	37	10	21169773	21169773	+	Missense_Mutation	SNP	C	T	T	rs147430943		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:21169773C>T	uc001iqi.3	-	4	827	c.430G>A	c.(430-432)Gag>Aag	p.E144K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	144					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCAGGGGGCTCCTTCATGTGG	0.413000														81			17		0	0	0.00074312	0	0
ZNF778	197320	broad.mit.edu	37	16	89294742	89294742	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:89294742C>T	uc021tms.1	+	6	2385	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	ZNF778_uc010vpg.2_Silent_p.F417F|ZNF778_uc002fmv.3_Silent_p.F654F|ZNF778_uc002fmw.2_Silent_p.F612F	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGAAAGCCTTCCGTGCCTCCT	0.448000														14			5		0	0	0.000602214	0	0
CAP2	10486	broad.mit.edu	37	6	17543150	17543150	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:17543150C>T	uc003ncb.3	+	9	1328	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.S336L|CAP2_uc011djb.2_Missense_Mutation_p.S298L|CAP2_uc011djc.2_Missense_Mutation_p.S250L|CAP2_uc011djd.2_Missense_Mutation_p.S102L	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	362	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGCGAAAAATCAACTATTCAG	0.338000														87			48		0	0	0.000781405	0	0
TRANK1	9881	broad.mit.edu	37	3	36897057	36897057	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:36897057C>T	uc003cgj.3	-	11	4272	c.4024G>A	c.(4024-4026)Gaa>Aaa	p.E1342K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1342					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.D1341Y(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCCGGTCTTCCTTGAAATTG	0.448000														99			35		0	0	0.000692331	0	0
PELI3	246330	broad.mit.edu	37	11	66239884	66239885	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:66239884_66239885CC>TT	uc001oic.4	+	4	563_564	c.399_400CC>TT	c.(397-402)tcccgg>tcTTgg	p.R134W	PELI3_uc021qlx.1_Missense_Mutation_p.R110W|PELI3_uc001oib.2_Missense_Mutation_p.R134W|PELI3_uc001oid.4_Missense_Mutation_p.R110W|PELI3_uc021qly.1_Missense_Mutation_p.R27W	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	134						cytosol	protein binding	p.R134R(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						ATACACTGTCCCGGAGCCACTC	0.545000														48			9		0	0	6.4e-05	0	0
CDH16	1014	broad.mit.edu	37	16	66947440	66947440	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:66947440C>T	uc002eql.3	-	7	1051	c.857G>A	c.(856-858)gGa>gAa	p.G286E	CDH16_uc010cdy.3_Missense_Mutation_p.G286E|CDH16_uc021tjx.1_Missense_Mutation_p.G286E|CDH16_uc002eqm.3_Missense_Mutation_p.G189E	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	286	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTAGAGGTTTCCCTCTGCATT	0.612000														72			14		0	0	0.000219431	0	0
TTN	7273	broad.mit.edu	37	2	179579889	179579889	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179579889G>A	uc021vsy.1	-	86	22517	c.22292C>T	c.(22291-22293)tCt>tTt	p.S7431F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4092F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8358	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATACCAAGAAACGTGAAA	0.453000														105			36		0	0	0.00111076	0	0
NCOR2	9612	broad.mit.edu	37	12	124816908	124816908	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:124816908G>C	uc021rga.1	-	42	6999	c.6882C>G	c.(6880-6882)atC>atG	p.I2294M	NCOR2_uc021rgb.1_Missense_Mutation_p.I2278M|NCOR2_uc010tbb.2_Missense_Mutation_p.I2287M|NCOR2_uc010tbc.2_Missense_Mutation_p.I2277M|NCOR2_uc021rgc.1_Missense_Mutation_p.I2277M|NCOR2_uc010tax.2_Missense_Mutation_p.I408M	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2298					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTTCTTGTTGATCTCTTGCT	0.602000											OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		91			10		0	0	0.000442599	0	0
MED13	9969	broad.mit.edu	37	17	60030357	60030357	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:60030357G>A	uc002izo.3	-	26	6163	c.6086C>T	c.(6085-6087)tCt>tTt	p.S2029F		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	2029					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGGTAATGAGATCCTGGAGA	0.463000														91			16		0	0	0.000422831	0	0
MYH14	79784	broad.mit.edu	37	19	50713817	50713817	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:50713817C>T	uc010enu.1	+	1	242	c.195C>T	c.(193-195)ttC>ttT	p.F65F	MYH14_uc002prq.1_Silent_p.F65F|MYH14_uc002prr.1_Silent_p.F65F	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	65	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TTCACGGGTTCGAGGCGGCGG	0.761000														3			4		0	0	0.000602214	0	0
CSMD3	114788	broad.mit.edu	37	8	113256643	113256643	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:113256643C>T	uc003ynu.3	-	64	10541	c.10382G>A	c.(10381-10383)gGa>gAa	p.G3461E	CSMD3_uc003yns.3_Missense_Mutation_p.G2663E|CSMD3_uc003ynt.3_Missense_Mutation_p.G3421E|CSMD3_uc011lhx.2_Missense_Mutation_p.G3292E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3461	Sushi 28.					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						GGGAACTTTTCCAGTCCAGGT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				29			11		0	0	0.000978159	0	0
AGAP9	642517	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:47207813T>C	uc009xnf.2	-	4	508	c.396_splice	c.e4+1	p.H132_splice	AGAP9_uc001jei.3_Splice_Site	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H228R(20)									TTTACTTACATGGTTTGTACA	0.294000														30			8		0	0	0.000673444	0	0
PTCHD2	57540	broad.mit.edu	37	1	11579925	11579925	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:11579925T>C	uc001ash.4	+	8	2326	c.2188T>C	c.(2188-2190)Tgg>Cgg	p.W730R	PTCHD2_uc001asi.1_Missense_Mutation_p.W730R	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	730					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAAGAGCCGCTGGGTGATTGT	0.657000														41			5		0	0	8.12818e-05	0	0
DGAT1	8694	broad.mit.edu	37	8	145540765	145540765	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:145540765A>G	uc003zbv.3	-	14	1436	c.1168T>C	c.(1168-1170)Tac>Cac	p.Y390H		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	390					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			ATGGGCTTGTAGAAGTGTCTG	0.592000														42			36		0	0	0.000814825	0	0
GPR56	9289	broad.mit.edu	37	16	57689336	57689336	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:57689336A>G	uc002emb.2	+	6	1086	c.794A>G	c.(793-795)tAc>tGc	p.Y265C	GPR56_uc002elz.1_Missense_Mutation_p.Y95C|GPR56_uc002ema.1_Missense_Mutation_p.Y90C|GPR56_uc002emc.2_Missense_Mutation_p.Y265C|GPR56_uc002emf.2_Missense_Mutation_p.Y265C|GPR56_uc010vhs.1_Missense_Mutation_p.Y265C|GPR56_uc002emd.2_Missense_Mutation_p.Y265C|GPR56_uc002eme.2_Missense_Mutation_p.Y265C|GPR56_uc010vht.1_Missense_Mutation_p.Y270C|GPR56_uc002emg.3_Missense_Mutation_p.Y265C|GPR56_uc010vhu.1_Missense_Mutation_p.Y90C	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	265					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						ATCATGGAGTACTCGGTGCTG	0.612000														46			17		0	0	0.000958276	0	0
SYT5	6861	broad.mit.edu	37	19	55687094	55687094	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:55687094C>T	uc002qjm.1	-	3	1583	c.523G>A	c.(523-525)Gag>Aag	p.E175K	SYT5_uc002qjp.2_Missense_Mutation_p.E172K|SYT5_uc002qjn.1_Missense_Mutation_p.E175K|SYT5_uc002qjo.1_Missense_Mutation_p.E175K	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	175	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GCGAAGGTCTCCCCAAAGTGA	0.622000														68			35		0	0	0.000374591	0	0
CST1	1469	broad.mit.edu	37	20	23729711	23729711	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:23729711G>A	uc002wtp.3	-	1	355	c.284C>T	c.(283-285)aCc>aTc	p.T95I		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	95						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CTGGGACTTGGTACATATGGT	0.567000														91			26		0	0	0.00058488	0	0
LOXL2	4017	broad.mit.edu	37	8	23160888	23160888	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:23160888A>G	uc003xdh.1	-	10	2242	c.1903T>C	c.(1903-1905)Ttc>Ctc	p.F635L	LOXL2_uc010lty.1_Missense_Mutation_p.F174L	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	635	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TAGTGGGTGAACACCTCCATG	0.567000														38			24		0	0	0.000720815	0	0
SYT3	84258	broad.mit.edu	37	19	51129210	51129210	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:51129210G>A	uc002pst.3	-	4	1980	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I	SYT3_uc002psv.3_Missense_Mutation_p.T449I|SYT3_uc010ycd.2_Missense_Mutation_p.T449I	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	449	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GATGGTCACGGTGAGGCGCCC	0.587000														38			9		0	0	0.000978159	0	0
LEPREL4	10609	broad.mit.edu	37	17	39964117	39964117	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:39964117G>A	uc002hxu.3	-	5	1523	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P	LEPREL4_uc002hxt.3_Silent_p.P352P	NM_006455	NP_006446	Q92791	SC65_HUMAN	Homo sapiens leprecan-like 4 (LEPREL4), mRNA.	352					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCACCTCCCGGGGCTGGAAGT	0.597000														25			6		0	0	0.00116845	0	0
TRIM13	10206	broad.mit.edu	37	13	50586282	50586282	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:50586282T>C	uc001vdp.1	+	3	633	c.215T>C	c.(214-216)cTg>cCg	p.L72P	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdq.1_Missense_Mutation_p.L69P|TRIM13_uc001vdr.1_Missense_Mutation_p.L69P|TRIM13_uc001vds.1_Missense_Mutation_p.L69P|TRIM13_uc021rjq.1_Missense_Mutation_p.L69P	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	69					ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		ATTAATAGCCTGCAGGTTAAT	0.458000														62			4		0	0	0.00024832	0	0
ARID2	196528	broad.mit.edu	37	12	46244796	46244796	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:46244796G>T	uc001ros.1	+	14	2890	c.2890G>T	c.(2890-2892)Gga>Tga	p.G964*	ARID2_uc001ror.3_Nonsense_Mutation_p.G964*|ARID2_uc009zkg.1_Nonsense_Mutation_p.G420*|ARID2_uc009zkh.1_Nonsense_Mutation_p.G591*|ARID2_uc001rou.1_Nonsense_Mutation_p.G298*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	964	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCAGCTAACTGGACAACCTAA	0.483000			"""N, S, F"""		hepatocellular carcinoma									80			26		2.41591e-17	2.11838e-16	0.000720815	1	0
SKP2	6502	broad.mit.edu	37	5	36181928	36181928	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:36181928G>A	uc003jkc.2	+	9	1290	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	SKP2_uc003jkd.3_Intron|SKP2_uc011cou.2_Missense_Mutation_p.G143E	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Homo sapiens S-phase kinase-associated protein 2 (p45) (SKP2), transcript variant 1, mRNA.	357					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation	SCF ubiquitin ligase complex|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGAACTTGGAGAAATTCCC	0.368000														126			38		0	0	0.000509022	0	0
SYMPK	8189	broad.mit.edu	37	19	46326660	46326660	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:46326660G>A	uc002pdn.3	-	19	2915	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F	SYMPK_uc002pdo.1_Silent_p.F890F|SYMPK_uc002pdp.1_Silent_p.F890F	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	890					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCGGGATGAGGAAGCGGACGT	0.627000														34			20		0	0	0.000375601	0	0
GAS2	2620	broad.mit.edu	37	11	22747898	22747898	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:22747898A>G	uc009yie.3	+	3	634	c.328A>G	c.(328-330)Aga>Gga	p.R110G	GAS2_uc001mqm.3_Missense_Mutation_p.R110G|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.R110G	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	110	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTTTTTTGCCAGAGACAATAC	0.408000														32			5		0	0	8.12818e-05	0	0
EFHB	151651	broad.mit.edu	37	3	19956845	19956845	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:19956845C>T	uc003cbl.4	-	4	1434	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	EFHB_uc003cbm.3_Missense_Mutation_p.G283E	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	413					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCCTTCATTTCCTTCTTTAAA	0.368000														64			19		0	0	0.000375601	0	0
LILRB2	10288	broad.mit.edu	37	19	54782925	54782925	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:54782925G>A	uc002qfb.3	-	5	963	c.697C>T	c.(697-699)Cct>Tct	p.P233S	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.P233S|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.P233S|LILRB2_uc010yet.2_Missense_Mutation_p.P117S|LILRB2_uc010yeu.1_Intron	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	233	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.P233P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCCACGACAGGACCCGGCTGC	0.572000														45			19		0	0	0.000295444	0	0
HEPH	9843	broad.mit.edu	37	X	65479996	65479996	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:65479996G>A	uc011moz.2	+	18	3390	c.3253G>A	c.(3253-3255)Gtt>Att	p.V1085I	HEPH_uc004dwn.3_Missense_Mutation_p.V1034I|HEPH_uc004dwo.3_Missense_Mutation_p.V764I|HEPH_uc010nkr.3_Missense_Mutation_p.V842I|HEPH_uc011mpa.2_Missense_Mutation_p.V1034I	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1031	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GACTTTTGAGGTTGTGGAGAT	0.522000														37			12		0	0	0.00010058	0	0
FAM47C	442444	broad.mit.edu	37	X	37028887	37028887	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:37028887G>A	uc004ddl.2	+	0	2456	c.2404G>A	c.(2404-2406)Gag>Aag	p.E802K		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	802										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCTGGAGCCTCCCAA	0.592000														39			22		0	0	0.000229342	0	0
DNAH3	55567	broad.mit.edu	37	16	21078638	21078638	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:21078638C>T	uc010vbe.2	-	23	3484	c.3484G>A	c.(3484-3486)Gat>Aat	p.D1162N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1162	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCAAGTAATCATTCAGCCCT	0.433000														46			14		0	0	0.000219431	0	0
SALL4	57167	broad.mit.edu	37	20	50400964	50400964	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:50400964G>A	uc002xwh.4	-	3	3103	c.3002C>T	c.(3001-3003)tCc>tTc	p.S1001F	SALL4_uc010gii.3_Missense_Mutation_p.S564F|SALL4_uc002xwi.4_Missense_Mutation_p.S224F	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	1001					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGCCCCCAAGGAAACCGGGAG	0.557000														43			12		0	0	0.000219431	0	0
SAFB	6294	broad.mit.edu	37	19	5668275	5668275	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:5668275C>T	uc002mcg.3	+	20	2898	c.2727C>T	c.(2725-2727)agC>agT	p.S909S	SAFB_uc002mcf.3_Silent_p.S907S|SAFB_uc002mce.4_Silent_p.S908S|SAFB_uc010xis.2_Silent_p.S840S|SAFB_uc010xit.2_Silent_p.S751S|SAFB_uc010xir.2_Silent_p.S906S|SAFB_uc010xiu.2_Silent_p.S708S	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	907	Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GCAGGCCCAGCGATGCCCGCT	0.627000														42			12		0	0	0.000151284	0	0
DNMT1	1786	broad.mit.edu	37	19	10259681	10259681	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:10259681G>A	uc002mng.3	-	25	2731	c.2551C>T	c.(2551-2553)Ccc>Tcc	p.P851S	DNMT1_uc010xlc.2_Missense_Mutation_p.P867S|DNMT1_uc002mnh.3_Missense_Mutation_p.P746S|DNMT1_uc010xld.2_Missense_Mutation_p.P851S	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	851	BAH 1.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	p.P851P(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AGGGACTCGGGATCCATGCCT	0.592000														35			5		0	0	0.00116845	0	0
DNAH3	55567	broad.mit.edu	37	16	21011627	21011627	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:21011627C>T	uc010vbe.2	-	42	6340	c.6340G>A	c.(6340-6342)Gat>Aat	p.D2114N		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2114	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGATGATATCCTGGGTCTGA	0.512000														49			15		0	0	0.000308642	0	0
USP9X	8239	broad.mit.edu	37	X	41075484	41075484	+	Silent	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:41075484T>C	uc004dfb.3	+	34	6297	c.5664T>C	c.(5662-5664)aaT>aaC	p.N1888N	USP9X_uc004dfc.3_Silent_p.N1888N	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1888					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TCCAAAGGAATGGTGGAGATG	0.418000														60			19		0	0	0.000958276	0	0
YLPM1	56252	broad.mit.edu	37	14	75249025	75249025	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:75249025C>T	uc001xqj.4	+	3	2403	c.2279C>T	c.(2278-2280)cCa>cTa	p.P760L	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCAAGAGGCCCAAGGTAGGTC	0.413000														65			12		0	0	0.000151284	0	0
MXD1	4084	broad.mit.edu	37	2	70164402	70164402	+	Silent	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:70164402A>G	uc002sfy.3	+	4	644	c.354A>G	c.(352-354)caA>caG	p.Q118Q	MXD1_uc010yqp.2_Silent_p.Q118Q|MXD1_uc010yqs.2_Silent_p.Q108Q|MXD1_uc010yqq.2_Silent_p.Q55Q|MXD1_uc010yqr.2_Non-coding_Transcript|MXD1_uc021vix.1_5'Flank	NM_002357	NP_002348	Q05195	MAD1_HUMAN	Homo sapiens MAX dimerization protein 1 (MXD1), transcript variant 1, mRNA.	118					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CCGTTCACCAAATCGACCAGC	0.557000														110			37		0	0	0.000814825	0	0
MAP1A	4130	broad.mit.edu	37	15	43822318	43822318	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:43822318C>G	uc001zrt.3	+	5	8775	c.8308C>G	c.(8308-8310)Caa>Gaa	p.Q2770E		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2770						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTGGTACCAACAAACTCATGA	0.498000														76			9		0	0	0.000274275	0	0
FAM41C	284593	broad.mit.edu	37	1	809511	809511	+	RNA	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:809511G>A	uc001abt.4	-	1		c.1082C>T								Homo sapiens family with sequence similarity 41, member C (FAM41C), non-coding RNA.																		GAATAATACGGCCATCCAGGA	0.512000														66			8		0	0	0.000274275	0	0
KIF11	3832	broad.mit.edu	37	10	94368953	94368954	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:94368953_94368954CC>AA	uc001kic.3	+	4	872_873	c.564_565CC>AA	c.(562-567)ccccgt>ccAAgt	p.R189S		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	189	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGATGATCCCCGTAACAAGGT	0.386000														400			10		0	0	6.4e-05	0	0
BCR	613	broad.mit.edu	37	22	23615833	23615833	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:23615833C>T	uc002zww.3	+	7	2583	c.1987C>T	c.(1987-1989)Cac>Tac	p.H663Y	BCR_uc002zwx.3_Missense_Mutation_p.H663Y|BCR_uc011aiy.2_Missense_Mutation_p.H252Y|BCR_uc010gtx.1_Missense_Mutation_p.H130Y	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	663	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTTGCTGAAGCACACTCCTGC	0.577000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									130			7		0	0	0.000274275	0	0
FARP1	10160	broad.mit.edu	37	13	99020412	99020412	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:99020412C>A	uc001vnh.3	+	4	600	c.361C>A	c.(361-363)Ccg>Acg	p.P121T	FARP1_uc001vnj.3_Missense_Mutation_p.P121T	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	121	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAAATTCTTTCCGCCTGACCA	0.368000														44			12		4.14922e-12	3.61738e-11	0.000422831	1	0
ASRGL1	80150	broad.mit.edu	37	11	62123802	62123802	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:62123802G>A	uc001nte.4	+	2	480	c.196G>A	c.(196-198)Ggg>Agg	p.G66R	ASRGL1_uc001ntf.4_Missense_Mutation_p.G66R|ASRGL1_uc001ntg.4_Intron|ASRGL1_uc001nth.1_5'Flank	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA.	66					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TTTAGGTTGTGGGTCTGTCTT	0.532000														50			25		0	0	0.00127121	0	0
ZC3H6	376940	broad.mit.edu	37	2	113069452	113069452	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:113069452G>A	uc002thq.1	+	4	1079	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	229							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAAACGAAAAGAACGTGGGGG	0.368000														30			12		0	0	0.00010058	0	0
TPTE	7179	broad.mit.edu	37	21	10933874	10933874	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr21:10933874C>T	uc002yip.1	-	16	1373	c.1005G>A	c.(1003-1005)gcG>gcA	p.A335A	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.A317A|TPTE_uc002yir.1_Silent_p.A297A|TPTE_uc010gkv.1_Silent_p.A197A	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	335	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACAGTGAATCGCTACGATGT	0.318000														378			26		0	0	0.00106085	0	0
C12orf43	64897	broad.mit.edu	37	12	121441993	121441994	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:121441993_121441994GG>TT	uc009zxa.1	-	5	867_868	c.844_845CC>AA	c.(844-846)cca>AAa	p.P282K	C12orf43_uc001tzh.1_Missense_Mutation_p.P251K|C12orf43_uc010szo.1_Missense_Mutation_p.P210K|C12orf43_uc010szp.1_Missense_Mutation_p.P241K|C12orf43_uc001tzi.1_Missense_Mutation_p.P252K	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	251										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTTGCTGGTGGGAATGGAGAG	0.569000														471			11		0	0	6.4e-05	0	0
DGKA	1606	broad.mit.edu	37	12	56334205	56334205	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:56334205G>A	uc001sij.3	+	10	1170	c.906G>A	c.(904-906)tgG>tgA	p.W302*	DGKA_uc009zoc.1_Nonsense_Mutation_p.W302*|DGKA_uc001sih.1_Nonsense_Mutation_p.W190*|DGKA_uc001sii.1_Nonsense_Mutation_p.W160*|DGKA_uc009zod.1_Nonsense_Mutation_p.W221*|DGKA_uc009zoe.1_3'UTR|DGKA_uc001sik.3_Nonsense_Mutation_p.W302*|DGKA_uc001sil.3_Nonsense_Mutation_p.W302*|DGKA_uc001sim.3_Nonsense_Mutation_p.W302*|DGKA_uc001sin.3_Nonsense_Mutation_p.W302*|DGKA_uc009zof.3_5'UTR|DGKA_uc001sio.3_Nonsense_Mutation_p.W44*	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	302					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ATTGTGTATGGTGCCACCTAG	0.612000											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			30		0	0	0.000339439	0	0
PAX2	5076	broad.mit.edu	37	10	102566256	102566256	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:102566256G>A	uc001krk.4	+	6	1305	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	PAX2_uc001krm.4_Missense_Mutation_p.R252Q|PAX2_uc001krn.4_Missense_Mutation_p.R229Q|PAX2_uc001kro.4_Missense_Mutation_p.R229Q|PAX2_uc010qps.2_Missense_Mutation_p.R228Q|PAX2_uc001krl.4_Missense_Mutation_p.R229Q|PAX2_uc001krp.1_Missense_Mutation_p.R225Q	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	252					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		AAGCACTTGCGAGCTGACACC	0.552000														225			65		0	0	0.000781405	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24533840	24533840	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:24533840C>T	uc003nef.3	+	10	1575	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	ALDH5A1_uc003neg.3_Missense_Mutation_p.P503L	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	503					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GTGGAGTGCCCTTTTGGTGGA	0.527000														133			35		0	0	0.000814825	0	0
GLRA3	8001	broad.mit.edu	37	4	175649721	175649721	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:175649721G>A	uc003ity.1	-	3	899	c.396C>T	c.(394-396)ttC>ttT	p.F132F	GLRA3_uc003itz.1_Silent_p.F132F	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	132					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.F132L(4)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CATTGGCAAAGAACAAATCAG	0.408000														65			15		0	0	0.000422831	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844902	93844902	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:93844902G>A	uc001pep.2	+	19	3479	c.3322G>A	c.(3322-3324)Ggt>Agt	p.G1108S	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	1108					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAAGAATCTGGGTCCAACAGG	0.473000														28			9		0	0	0.000673444	0	0
PIP	5304	broad.mit.edu	37	7	142836720	142836720	+	Silent	SNP	C	T	T	rs147384445	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:142836720C>T	uc003wcf.1	+	3	462	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	142						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CTATTGAAATCCTAAAGGTAG	0.413000														135			30		0	0	0.000409698	0	0
INADL	10207	broad.mit.edu	37	1	62393461	62393461	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:62393461T>A	uc001dab.3	+	26	3744	c.3630T>A	c.(3628-3630)gaT>gaA	p.D1210E	INADL_uc009waf.1_Missense_Mutation_p.D1210E|INADL_uc001daa.2_Missense_Mutation_p.D1210E|INADL_uc001dad.3_Missense_Mutation_p.D907E|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1210					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTCTGACTGATGACAGTGATG	0.403000														60			22		0	0	0.000878237	0	0
GCNT1	2650	broad.mit.edu	37	9	79117979	79117979	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:79117979G>A	uc022bif.1	+	0	682	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	GCNT1_uc010mpf.3_Missense_Mutation_p.E228K|GCNT1_uc010mpg.3_Missense_Mutation_p.E228K|GCNT1_uc010mph.3_Missense_Mutation_p.E228K|GCNT1_uc004akf.4_Missense_Mutation_p.E228K|GCNT1_uc010mpi.3_Missense_Mutation_p.E228K|GCNT1_uc004akh.4_Missense_Mutation_p.E228K	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	228	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						AACCAACCTAGAAATTGTCAG	0.423000														57			16		0	0	0.00074312	0	0
NMS	129521	broad.mit.edu	37	2	101093863	101093863	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:101093863C>T	uc002tan.1	+	4	255	c.248C>T	c.(247-249)cCa>cTa	p.P83L		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	83					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GCAACACATCCAGTTAAAACT	0.378000														25			13		0	0	0.000308642	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031079	52031079	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:52031079C>T	uc002pwy.3	-	6	1318	c.1110G>A	c.(1108-1110)gtG>gtA	p.V370V	SIGLEC6_uc002pwz.3_Silent_p.V354V|SIGLEC6_uc010ydb.2_Silent_p.V318V|SIGLEC6_uc010ydc.2_Intron|SIGLEC6_uc002pxa.3_Intron|SIGLEC6_uc010eoz.2_Intron	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	370					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TTCTAGTCTTCACTCTGAGGG	0.502000														84			18		0	0	0.000958276	0	0
ADAM30	11085	broad.mit.edu	37	1	120438457	120438458	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:120438457_120438458CC>AA	uc001eij.3	-	0	690_691	c.502_503GG>TT	c.(502-504)ggg>TTg	p.G168L		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	168					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G168W(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AACCTGATTCCCAAACTGCTCT	0.436000														760			17		0	0	6.4e-05	0	0
PRMT3	10196	broad.mit.edu	37	11	20417360	20417360	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:20417360C>T	uc001mqb.3	+	5	629	c.412C>T	c.(412-414)Ctt>Ttt	p.L138F	PRMT3_uc001mqc.3_Missense_Mutation_p.L61F|PRMT3_uc010rdn.2_Missense_Mutation_p.L76F	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	138							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TGTAGAAGATCTTTATGAACC	0.348000														55			19		0	0	0.000175454	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242418	87242418	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:87242418C>T	uc003ydq.1	-	0	187	c.89G>A	c.(88-90)gGa>gAa	p.G30E	SLC7A13_uc003ydr.1_Missense_Mutation_p.G30E	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	30						integral to membrane	amino acid transmembrane transporter activity	p.G30E(2)|p.A29E(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CACAAAAATTCCTGCACCAAT	0.453000														83			7		0	0	0.000274275	0	0
DNAH6	1768	broad.mit.edu	37	2	84784929	84784929	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:84784929C>T	uc010fgb.3	+	10	1810	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L	DNAH6_uc002soo.3_Missense_Mutation_p.S137L|DNAH6_uc002sop.3_Missense_Mutation_p.S137L	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	558	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S558*(2)|p.S137*(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTGCCTGATTCGTATTTTGAT	0.378000														98			53		0	0	0.000781405	0	0
PKP2	5318	broad.mit.edu	37	12	32945371	32945371	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:32945371G>A	uc001rlj.4	-	13	2748	c.2633C>T	c.(2632-2634)tCc>tTc	p.S878F	PKP2_uc001rlk.4_Missense_Mutation_p.S834F|PKP2_uc010skj.2_Missense_Mutation_p.S831F	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	878					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTCTTTAAGGGAGTGGTAGGC	0.423000														65			6		0	0	0.000274275	0	0
C19orf26	255057	broad.mit.edu	37	19	1231091	1231091	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:1231091G>A	uc002lrm.2	-	8	1420	c.1145C>T	c.(1144-1146)tCa>tTa	p.S382L		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	408						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCATCTACTGAAAAATACCT	0.706000										HNSCC(14;0.022)				28			6		0	0	0.000157383	0	0
SIDT1	54847	broad.mit.edu	37	3	113327014	113327014	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:113327014C>T	uc021xcn.1	+	15	2203	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.R518C|SIDT1_uc011big.2_Missense_Mutation_p.R271C|SIDT1_uc021xcq.1_5'UTR|SIDT1_uc011bii.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	518						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AGTCTTGCGCCGCGACATCCT	0.537000														99			7		0	0	0.000157383	0	0
DNAH9	1770	broad.mit.edu	37	17	11687793	11687793	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:11687793C>T	uc002gne.3	+	40	8066	c.7998C>T	c.(7996-7998)ttC>ttT	p.F2666F	DNAH9_uc010coo.3_Silent_p.F1960F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2666	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTACCACCTTCCTACCCACAG	0.522000														90			32		0	0	0.00058488	0	0
TNIP3	79931	broad.mit.edu	37	4	122063913	122063913	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:122063913C>T	uc021xrj.1	-	10	1064	c.985G>A	c.(985-987)Gag>Aag	p.E329K	TNIP3_uc010ing.3_Missense_Mutation_p.E252K|TNIP3_uc011cgj.2_Missense_Mutation_p.E322K	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	252										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTTTCTTTCTCCATCTGACAA	0.323000														73			12		0	0	0.00010058	0	0
SLC35C1	55343	broad.mit.edu	37	11	45832350	45832350	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:45832350C>T	uc001nbp.3	+	1	1271	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	SLC35C1_uc001nbo.3_Nonsense_Mutation_p.Q174*|SLC35C1_uc010rgm.2_Nonsense_Mutation_p.Q174*	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN	Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.	187						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TGGTGTGGACCAGGAGGGGGC	0.627000														38			9		0	0	0.000442599	0	0
HUWE1	10075	broad.mit.edu	37	X	53595718	53595718	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:53595718C>T	uc004dsp.3	-	48	7043	c.6641G>A	c.(6640-6642)cGg>cAg	p.R2214Q	HUWE1_uc004dsn.3_Missense_Mutation_p.R1038Q	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2214					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGGAAAAGCCGAATGATGTT	0.517000														35			4		0	0	0.00024832	0	0
RNF128	79589	broad.mit.edu	37	X	106016362	106016362	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:106016362G>A	uc004eml.3	+	1	954	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	RNF128_uc004emk.3_Missense_Mutation_p.R209Q	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	235						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CGAAGGCTACGGAATGCAAGA	0.373000														60			19		0	0	0.000175454	0	0
ASXL2	55252	broad.mit.edu	37	2	25982395	25982395	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:25982395A>G	uc002rgs.2	-	7	1116	c.895T>C	c.(895-897)Tgc>Cgc	p.C299R	ASXL2_uc002rgt.1_Missense_Mutation_p.C39R	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTTGCTGGCAATCTCCAGGA	0.418000														105			53		0	0	0.000781405	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28454676	28454676	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:28454676G>A	uc003ceh.3	+	2	285	c.117G>A	c.(115-117)ttG>ttA	p.L39L	ZCWPW2_uc003cei.3_Silent_p.L39L	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	39							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AAAATTGTTTGAAATGGAGAT	0.348000														31			10		0	0	0.000442599	0	0
BTD	686	broad.mit.edu	37	3	15686538	15686538	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:15686538C>T	uc011avv.2	+	3	1269	c.1181C>T	c.(1180-1182)cCc>cTc	p.P394L	BTD_uc003cah.3_Missense_Mutation_p.P392L|BTD_uc011avw.2_Missense_Mutation_p.P394L|BTD_uc011avx.2_Missense_Mutation_p.P372L	NM_000060	NP_000051	P43251	BTD_HUMAN	Homo sapiens biotinidase (BTD), mRNA.	392					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						AATGCTCCTCCCACATTTCAC	0.473000														119			32		0	0	0.000339439	0	0
OR11H4	390442	broad.mit.edu	37	14	20711921	20711921	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:20711921C>T	uc010tld.2	+	0	971	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CGTCAAAATTCGTGAGCCAAA	0.398000														51			5		0	0	0.000602214	0	0
SETD3	84193	broad.mit.edu	37	14	99879362	99879362	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:99879362G>A	uc001ygc.3	-	7	945	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S	SETD3_uc001ygd.3_Missense_Mutation_p.P259S|SETD3_uc021sbn.1_Missense_Mutation_p.P259S|SETD3_uc001ygf.3_Missense_Mutation_p.P259S	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	259	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	p.P259P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TCCTCTGTGGGAATTTGGTTT	0.463000														54			8		0	0	0.000274275	0	0
PMS2	5395	broad.mit.edu	37	7	6017358	6017358	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:6017358G>A	uc003spl.3	-	13	2393	c.2306C>T	c.(2305-2307)tCc>tTc	p.S769F	PMS2_uc003spj.3_Missense_Mutation_p.S663F|PMS2_uc003spk.3_Missense_Mutation_p.S634F|PMS2_uc011jwl.2_Missense_Mutation_p.S634F|PMS2_uc010ktg.3_Missense_Mutation_p.S458F|PMS2_uc010kte.3_Missense_Mutation_p.S368F|PMS2_uc010ktf.2_Intron	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	769					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGTTGGCAAGGAAATCAGTTT	0.463000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					28			17		0	0	0.000375601	0	0
VMP1	81671	broad.mit.edu	37	17	57917128	57917129	+	Splice_Site	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:57917128_57917129GG>TT	uc002ixu.4	+	12	1351	c.1078_splice	c.e12-1	p.G360_splice	VMP1_uc010wog.2_Splice_Site_p.G168_splice|VMP1_uc010woh.2_Splice_Site_p.G304_splice|VMP1_uc010woi.2_Splice_Site_p.G263_splice|VMP1_uc010woj.2_Splice_Site_p.G226_splice|MIR21_uc002ixv.3_5'Flank	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	Homo sapiens vacuole membrane protein 1 (VMP1), mRNA.	360					autophagy|cell adhesion	ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TATTTCTACAGGGAGAAAACTG	0.361000														212			11		0	0	6.4e-05	0	0
TJP3	27134	broad.mit.edu	37	19	3736220	3736220	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:3736220G>A	uc010xhv.2	+	9	1284	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	TJP3_uc010xhs.2_Silent_p.R395R|TJP3_uc010xht.2_Silent_p.R359R|TJP3_uc010xhu.2_Silent_p.R404R|TJP3_uc010xhw.2_Silent_p.R414R	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	409	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGCTGCGGCTGGCAGGGG	0.677000														17			9		0	0	0.000673444	0	0
TBP	6908	broad.mit.edu	37	6	170871049	170871049	+	Silent	SNP	G	A	A	rs10592951		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:170871049G>A	uc003qxu.3	+	2	504	c.225G>A	c.(223-225)caG>caA	p.Q75Q	TBP_uc011ehf.2_Silent_p.Q55Q|TBP_uc003qxt.3_Silent_p.Q75Q|TBP_uc011ehg.1_Silent_p.Q75Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	75	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q75Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcaacagcagcagcagc	0.567000														20			4		0	0	0.000602214	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508805	106508805	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:106508805G>A	uc003vdv.4	+	1	884	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	PIK3CG_uc003vdu.3_Missense_Mutation_p.E267K|PIK3CG_uc003vdw.3_Missense_Mutation_p.E267K	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	267					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.S266S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCCAAAGCGAACAGGATTT	0.557000														44			11		0	0	0.000978159	0	0
USP8	9101	broad.mit.edu	37	15	50782595	50782595	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:50782595C>T	uc001zym.4	+	14	2607	c.2107C>T	c.(2107-2109)Cct>Tct	p.P703S	USP8_uc001zyl.4_Missense_Mutation_p.P703S|USP8_uc001zyn.4_Missense_Mutation_p.P703S|USP8_uc010ufh.2_Missense_Mutation_p.P597S|USP8_uc001zyp.4_5'Flank	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	703					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GCCACAGATTCCTGCTGAGCG	0.512000														70			30		0	0	0.000279167	0	0
LRP1B	53353	broad.mit.edu	37	2	141625352	141625352	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:141625352G>A	uc002tvj.1	-	26	5358	c.4386C>T	c.(4384-4386)atC>atT	p.I1462I	LRP1B_uc010fnl.1_Silent_p.I644I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1462					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GACCTCGGATGATTTCTATCA	0.408000										TSP Lung(27;0.18)				35			10		0	0	0.000442599	0	0
KRT17	3872	broad.mit.edu	37	17	39775938	39775938	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:39775938C>T	uc002hxh.2	-	7	1328	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	403	Tail.			LTQYKKEPVT -> FRMSESSPVS (in Ref. 4; AC022596).	epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CGGGTGGTCACCGCTGCAGGA	0.627000														52			7		0	0	8.12818e-05	0	0
CLTCL1	8218	broad.mit.edu	37	22	19195804	19195804	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:19195804C>G	uc021wle.1	-	21	3535	c.3460G>C	c.(3460-3462)Gtt>Ctt	p.V1154L	CLTCL1_uc021wld.1_Missense_Mutation_p.V1154L|CLTCL1_uc021wlc.1_Missense_Mutation_p.V1154L|CLTCL1_uc021wlf.1_Missense_Mutation_p.V1154L|CLTCL1_uc011agw.1_Missense_Mutation_p.V1154L|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpd.1_Intron|CLTCL1_uc002zpe.2_Missense_Mutation_p.V114L	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1154	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGAAATTTAACTAGATCCTCC	0.423000			T	?	ALCL									91			20		0	0	0.000295444	0	0
XIST	7503	broad.mit.edu	37	X	73065887	73065887	+	RNA	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:73065887C>G	uc004ebm.1	-	0		c.6702G>C								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		ATTGTCCAAACGTAAGCGTCT	0.502000														66			20		0	0	0.000586117	0	0
ERN1	2081	broad.mit.edu	37	17	62135310	62135310	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:62135310G>A	uc002jdz.2	-	11	1363	c.1250C>T	c.(1249-1251)aCc>aTc	p.T417I		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	417					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCGAGACACGGTGGTAGGTGC	0.562000														9			4		0	0	0.000602214	0	0
PCDH15	65217	broad.mit.edu	37	10	55568492	55568492	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:55568492G>A	uc021pqw.1	-	35	5722	c.5327C>T	c.(5326-5328)tCg>tTg	p.S1776L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.S1771L|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCTCCTGGCGACTTCTTTTG	0.478000										HNSCC(58;0.16)				5			7		0	0	0.000274275	0	0
UBN1	29855	broad.mit.edu	37	16	4909162	4909162	+	Splice_Site	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:4909162T>C	uc002cyb.3	+	5	906	c.567_splice	c.e5+2	p.K189_splice	UBN1_uc010uxw.2_Splice_Site_p.K189_splice|UBN1_uc002cyc.3_Splice_Site_p.K189_splice	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	189	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCTCCAAAGGTTAGAATGTGC	0.423000														40			21		0	0	0.00121646	0	0
KLRC2	3822	broad.mit.edu	37	12	10568306	10568306	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:10568306G>A	uc001qyi.1	-	5	720	c.675C>T	c.(673-675)atC>atT	p.I225I	KLRC2_uc001qyf.3_Silent_p.I225I|KLRC2_uc021qvc.1_Silent_p.I225I|KLRC2_uc001qyh.3_Silent_p.I225I|KLRC2_uc021qvd.1_Silent_p.I225I	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	224	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TGCTCACAATGATTCTTGAAG	0.353000														27			19		0	0	0.00074312	0	0
RSL1D1	26156	broad.mit.edu	37	16	11931674	11931674	+	Silent	SNP	G	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:11931674G>T	uc002dbp.1	-	8	1516	c.1443C>A	c.(1441-1443)ccC>ccA	p.P481P	RSL1D1_uc010buv.1_Silent_p.P480P|RSL1D1_uc010uyw.1_Silent_p.P261P	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	481					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TGGGTTTTTTGGGCCATTTTT	0.453000														159			8		0.000157383	0.0013535	0.000157383	1	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000														54			5		0	0	8.12818e-05	0	0
MYH7	4625	broad.mit.edu	37	14	23888777	23888777	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:23888777C>T	uc001wjx.3	-	27	3874	c.3768G>A	c.(3766-3768)atG>atA	p.M1256I	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1256					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGTGCTCATTCATCTGGTCTT	0.572000														124			40		0	0	0.000589545	0	0
LRP1B	53353	broad.mit.edu	37	2	141609313	141609313	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:141609313C>A	uc002tvj.1	-	27	5591	c.4619G>T	c.(4618-4620)tGc>tTc	p.C1540F	LRP1B_uc010fnl.1_Missense_Mutation_p.C722F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1540					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGTGAGAGCAGGGGCCTTT	0.443000										TSP Lung(27;0.18)				71			16		2.94398e-08	2.55784e-07	0.000958276	1	0
TPRG1L	127262	broad.mit.edu	37	1	3542403	3542404	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:3542403_3542404AG>GA	uc001akm.3	+	2	501_502	c.420_421AG>GA	c.(418-423)gtagac>gtGAac	p.D141N	TPRG1L_uc009vlj.3_Intron	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN	Homo sapiens tumor protein p63 regulated 1-like (TPRG1L), mRNA.	141						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		TCAACGCAGTAGACACCATTTC	0.530000														32			10		0	0	6.4e-05	0	0
KRT82	3888	broad.mit.edu	37	12	52788966	52788966	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:52788966G>A	uc001sai.1	-	8	1450	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	445	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGGCGCCTTTGGAGCTGCTCA	0.627000														12			9		0	0	0.000978159	0	0
GRIA3	2892	broad.mit.edu	37	X	122538601	122538601	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:122538601G>A	uc004etq.4	+	9	1628	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	GRIA3_uc004etr.4_Missense_Mutation_p.E446K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.E430K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	446					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGAGCAACTGGAAGGAAATGA	0.378000														30			5		0	0	8.12818e-05	0	0
HMCN1	83872	broad.mit.edu	37	1	185892709	185892709	+	Silent	SNP	C	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:185892709C>A	uc001grq.1	+	7	1438	c.1209C>A	c.(1207-1209)ctC>ctA	p.L403L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	403					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTTCTTTCTCAAAGTAACAG	0.348000														66			5		0.000602214	0.00514995	0.000602214	1	0
COL3A1	1281	broad.mit.edu	37	2	189868984	189868984	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:189868984G>A	uc002uqj.1	+	40	2941	c.2824_splice	c.e40-1	p.G942_splice		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	942	Triple-helical region.		G -> E (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGTATTAGGGAGCTCCAGGC	0.458000														20			7		0	0	0.000274275	0	0
CCNF	899	broad.mit.edu	37	16	2488085	2488085	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:2488085C>T	uc002cqd.1	+	5	643	c.555C>T	c.(553-555)tcC>tcT	p.S185S	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	185					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ACAAAGCATCCATATTGCACT	0.498000														50			15		0	0	0.00074312	0	0
PHACTR1	221692	broad.mit.edu	37	6	13053694	13053695	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:13053694_13053695GG>TT	uc003nah.2	+	4	721_722	c.348_349GG>TT	c.(346-351)ctggga>ctTTga	p.G117*	PHACTR1_uc011dir.2_Nonsense_Mutation_p.G117*|PHACTR1_uc010jpc.3_Nonsense_Mutation_p.G117*|PHACTR1_uc003nag.2_Nonsense_Mutation_p.G117*	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	117						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TTGCCAACCTGGGAAGGATTTT	0.505000														410			11		0	0	6.4e-05	0	0
MYH1	4619	broad.mit.edu	37	17	10411857	10411857	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:10411857C>T	uc002gmo.3	-	15	1814	c.1720G>A	c.(1720-1722)Ggc>Agc	p.G574S	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	574	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCAGGCTTGCCTTTGGCAGGC	0.507000														48			17		0	0	0.000566183	0	0
AWAT2	158835	broad.mit.edu	37	X	69262222	69262222	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:69262222G>A	uc004dxt.1	-	5	668	c.662C>T	c.(661-663)cCt>cTt	p.P221L		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	221						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GGCATAGGCAGGTATTAGAGG	0.532000														29			4		0	0	0.000602214	0	0
CNST	163882	broad.mit.edu	37	1	246810539	246810539	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:246810539A>G	uc001ibp.3	+	8	1414	c.1036A>G	c.(1036-1038)Aca>Gca	p.T346A	CNST_uc001ibo.4_Missense_Mutation_p.T346A	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	346					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGACGTGCAAACAGATTCCCC	0.547000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			46		0	0	0.000781405	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905792	132905792	+	RNA	SNP	G	C	C	rs143919579	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:132905792G>C	uc002tti.3	-	6		c.1099C>G			ANKRD30BL_uc002ttj.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.									p.S230C(2)		endometrium(1)|kidney(3)	4						TGTTCCTTCAGATGTTCCTTC	0.443000														25			3		0	0	0.000602214	0	0
CYTIP	9595	broad.mit.edu	37	2	158272369	158272369	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:158272369C>T	uc002tzj.1	-	7	972	c.900G>A	c.(898-900)agG>agA	p.R300R	CYTIP_uc010zcl.1_Silent_p.R194R	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	300	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCCGGTTCCTCCTTGAAGATG	0.547000														73			17		0	0	0.00121646	0	0
RBM6	10180	broad.mit.edu	37	3	50114528	50114528	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:50114528C>T	uc003cyc.3	+	20	3582	c.3334C>T	c.(3334-3336)Cga>Tga	p.R1112*	RBM6_uc003cyd.3_Nonsense_Mutation_p.R590*|RBM6_uc011bdi.2_Nonsense_Mutation_p.R454*|RBM6_uc003cye.3_Nonsense_Mutation_p.R590*|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	1112					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGATGCTGTTCGAAGAGTCAT	0.463000														42			14		0	0	0.000422831	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43933532	43933533	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:43933532_43933533CC>AA	uc010yny.2	+	9	1881_1882	c.1798_1799CC>AA	c.(1798-1800)cca>AAa	p.P600K	PLEKHH2_uc002rte.3_Missense_Mutation_p.P600K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.P599K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	600						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CATGACCACCCCAGTGTATACA	0.361000														580			13		0	0	6.4e-05	0	0
SLIT2	9353	broad.mit.edu	37	4	20555511	20555511	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:20555511G>A	uc003gpr.1	+	25	2849	c.2645G>A	c.(2644-2646)gGa>gAa	p.G882E	SLIT2_uc003gps.1_Missense_Mutation_p.G874E	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	882	LRRCT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGGAGCCTGGAATTGCTCGT	0.423000														57			15		0	0	0.000566183	0	0
IL1R1	3554	broad.mit.edu	37	2	102781254	102781254	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:102781254G>A	uc002tbq.3	+	3	400	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	IL1R1_uc010fix.3_Missense_Mutation_p.E28K|IL1R1_uc002tbr.3_Missense_Mutation_p.E28K	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	28	Ig-like C2-type 1.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GGAACGTGAAGAAAAAATAAT	0.338000														33			13		0	0	0.000151284	0	0
ESRP1	54845	broad.mit.edu	37	8	95677408	95677408	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:95677408C>T	uc003ygq.4	+	8	1098	c.915C>T	c.(913-915)ttC>ttT	p.F305F	ESRP1_uc003ygr.4_Silent_p.F305F|ESRP1_uc003ygs.4_Silent_p.F305F|ESRP1_uc003ygt.4_Silent_p.F305F|ESRP1_uc003ygu.4_Silent_p.F305F|ESRP1_uc003ygv.3_Silent_p.F145F|ESRP1_uc003ygw.3_Silent_p.F145F	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	305					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTGAAGATTTCCTTAAAATTG	0.358000														567			56		0	0	0.000781405	0	0
CD5	921	broad.mit.edu	37	11	60885711	60885712	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:60885711_60885712GG>AA	uc009ynk.3	+	2	262_263	c.159_160GG>AA	c.(157-162)aaggac>aaAAac	p.D54N		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	54	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCTACCTCAAGGACGGATGGCA	0.619000														57			30		0	0	6.4e-05	0	0
TMEM87A	25963	broad.mit.edu	37	15	42523438	42523438	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:42523438G>A	uc021sjr.1	-	11	1242	c.1083C>T	c.(1081-1083)tcC>tcT	p.S361S	TMEM87A_uc001zpf.4_Silent_p.S300S	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	Homo sapiens transmembrane protein 87A (TMEM87A), transcript variant 1, mRNA.	361						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TAAAGGCCAAGGAAGCAAGAT	0.458000														43			8		0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179584176	179584176	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179584176G>A	uc021vsy.1	-	79	20434	c.20209C>T	c.(20209-20211)Cgg>Tgg	p.R6737W	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3398W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7664	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCACAATCCGATCTATGTGG	0.478000														45			12		0	0	0.000978159	0	0
DNAH5	1767	broad.mit.edu	37	5	13759047	13759047	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:13759047C>T	uc003jfd.2	-	60	10369	c.10327G>A	c.(10327-10329)Gat>Aat	p.D3443N	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3443	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGCAGATCCTGCATGGCC	0.547000									Kartagener syndrome					112			59		0	0	0.000781405	0	0
PAPD4	167153	broad.mit.edu	37	5	78952792	78952792	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:78952792C>T	uc010jae.1	+	11	1457	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	PAPD4_uc003kgb.2_Missense_Mutation_p.P347S|PAPD4_uc010jaf.1_Missense_Mutation_p.P347S|PAPD4_uc003kga.2_Missense_Mutation_p.P343S|PAPD4_uc003kfz.2_Missense_Mutation_p.P304S	NM_001114393	NP_776158	Q6PIY7	GLD2_HUMAN	Homo sapiens PAP associated domain containing 4 (PAPD4), transcript variant 2, mRNA.	347					RNA polyadenylation|histone mRNA catabolic process|mRNA processing	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		CCTACCTGAACCCATCCTTCC	0.323000														39			8		0	0	0.000442599	0	0
UNC45B	146862	broad.mit.edu	37	17	33513459	33513459	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:33513459G>A	uc002hja.3	+	19	2774	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	UNC45B_uc002hjb.3_Missense_Mutation_p.E891K|UNC45B_uc002hjc.3_Missense_Mutation_p.E891K|UNC45B_uc010cto.3_Missense_Mutation_p.E812K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	893					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGAGCTGCTGGAGATCCTGAC	0.552000														35			14		0	0	0.000219431	0	0
C9orf131	138724	broad.mit.edu	37	9	35043732	35043733	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:35043732_35043733GG>TT	uc003zvw.3	+	1	1135_1136	c.1106_1107GG>TT	c.(1105-1107)tgg>tTT	p.W369F	C9orf131_uc003zvu.3_Missense_Mutation_p.W321F|C9orf131_uc003zvv.3_Missense_Mutation_p.W296F|C9orf131_uc003zvx.3_Missense_Mutation_p.W334F	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	369										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AAGGACTTCTGGGGAACCGTGG	0.545000														168			9		0	0	6.4e-05	0	0
OR52A5	390054	broad.mit.edu	37	11	5153159	5153159	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5153159G>A	uc010qyx.2	-	0	714	c.714C>T	c.(712-714)ttC>ttT	p.F238F		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAAAGGCCTTGAATCGTGCCT	0.413000														31			13		0	0	0.00010058	0	0
CACHD1	57685	broad.mit.edu	37	1	65145291	65145291	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:65145291C>T	uc001dbo.1	+	23	3210	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I	CACHD1_uc001dbp.1_Silent_p.I790I|CACHD1_uc001dbq.1_Silent_p.I790I|CACHD1_uc010opa.1_Silent_p.I279I	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	1086					calcium ion transport	integral to membrane		p.V1034V(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATGAGGTGATCACATTAAACA	0.493000														72			28		0	0	0.000279167	0	0
KLHL2	11275	broad.mit.edu	37	4	166239029	166239029	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:166239029C>T	uc003irb.3	+	13	1920	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	KLHL2_uc011cjm.2_Missense_Mutation_p.S558F|KLHL2_uc003irc.3_Missense_Mutation_p.S466F|KLHL2_uc010ira.3_Missense_Mutation_p.S207F	NM_007246	NP_001154994	O95198	KLHL2_HUMAN	Homo sapiens kelch-like 2, Mayven (Drosophila) (KLHL2), transcript variant 1, mRNA.	554					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GATGATGGTTCCTGTAACTTG	0.368000														67			7		0	0	0.000157383	0	0
RIF1	55183	broad.mit.edu	37	2	152293404	152293404	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:152293404G>A	uc002txm.3	+	11	1420	c.1259G>A	c.(1258-1260)gGa>gAa	p.G420E	RIF1_uc010fnv.2_Missense_Mutation_p.G384E|RIF1_uc002txn.3_Missense_Mutation_p.G420E|RIF1_uc002txl.3_Missense_Mutation_p.G420E|RIF1_uc002txo.3_Missense_Mutation_p.G420E|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	420					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTTAGGTGGAATGGCCACA	0.423000														43			16		0	0	0.000958276	0	0
PAICS	10606	broad.mit.edu	37	4	57325560	57325560	+	Silent	SNP	T	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:57325560T>G	uc010ihd.1	+	8	1218	c.1137T>G	c.(1135-1137)ctT>ctG	p.L379L	PAICS_uc003hbs.1_Silent_p.L378L|PAICS_uc011cac.1_Silent_p.L378L|PAICS_uc003hbt.1_Silent_p.L385L|PAICS_uc003hbu.1_Silent_p.L378L	NM_006452	NP_006443	P22234	PUR6_HUMAN	Homo sapiens phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS), transcript variant 2, mRNA.	378	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	CAACCGTACTTTCTCCAGAAG	0.373000														31			9		0	0	0.000673444	0	0
KCNH3	23416	broad.mit.edu	37	12	49938144	49938144	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:49938144G>A	uc001ruh.1	+	6	1428	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	KCNH3_uc010smj.1_Missense_Mutation_p.E330K	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	390					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CGAGAGCAGCGAATCCGAGCT	0.622000														40			10		0	0	0.000673444	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134454895	134454895	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:134454895C>G	uc022bos.1	-	23	3436	c.3277G>C	c.(3277-3279)Gag>Cag	p.E1093Q	RAPGEF1_uc022bot.1_Missense_Mutation_p.E1075Q	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	1075					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TAGGTCTTCTCTTCCCGGTCT	0.557000														163			20		0	0	0.000229342	0	0
ASXL3	80816	broad.mit.edu	37	18	31320396	31320396	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:31320396C>T	uc010dmg.1	+	10	3083	c.3028C>T	c.(3028-3030)Ccc>Tcc	p.P1010S	ASXL3_uc002kxq.2_Missense_Mutation_p.P717S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1010					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCAAGGGTTCCCCCTCTCAA	0.413000														11			4		0	0	0.00024832	0	0
RYR1	6261	broad.mit.edu	37	19	39001302	39001302	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:39001302C>T	uc002oit.3	+	59	9133	c.9003C>T	c.(9001-9003)atC>atT	p.I3001I	RYR1_uc002oiu.3_Silent_p.I3001I|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3001					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCTCCAGATCCTGCTCCCTT	0.577000														192			52		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13830235	13830235	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:13830235G>A	uc003jfd.2	-	36	6191	c.6149C>T	c.(6148-6150)tCc>tTc	p.S2050F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2050	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAATAATGGAAATTTGCTG	0.398000									Kartagener syndrome					55			17		0	0	0.000958276	0	0
ACVR1C	130399	broad.mit.edu	37	2	158395120	158395120	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:158395120G>A	uc002tzk.4	-	7	1564	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	ACVR1C_uc002tzl.4_Nonsense_Mutation_p.R361*|ACVR1C_uc010fof.3_Nonsense_Mutation_p.R284*|ACVR1C_uc010foe.3_Nonsense_Mutation_p.R391*	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	441	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATACTTGGTCGAAACTTCTGG	0.388000														65			38		0	0	0.000319135	0	0
DDX42	11325	broad.mit.edu	37	17	61886300	61886300	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:61886300T>A	uc002jbu.3	+	10	1401	c.1144T>A	c.(1144-1146)Tgt>Agt	p.C382S	DDX42_uc002jbv.3_Missense_Mutation_p.C382S|DDX42_uc002jbw.1_Missense_Mutation_p.C118S|DDX42_uc002jbx.3_Missense_Mutation_p.C118S|DDX42_uc002jby.3_5'Flank	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	382	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATTGTTGTGTGTACCCCAGT	0.473000														58			28		0	0	0.000227799	0	0
DRG2	1819	broad.mit.edu	37	17	18004832	18004832	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:18004832C>T	uc002gsh.1	+	7	712	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_001388	NP_001379	P55039	DRG2_HUMAN	Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), mRNA.	219					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					AAGTGCTTTTCCGAGAAGACT	0.597000														62			9		0	0	0.000274275	0	0
TLE6	79816	broad.mit.edu	37	19	2994037	2994037	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:2994037G>A	uc002lwt.2	+	15	1667	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R	TLE6_uc002lwu.2_Missense_Mutation_p.G397R	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	397					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCAAGCGTTGGAATGGACGA	0.592000														7			6		0	0	0.000442599	0	0
OR5B12	390191	broad.mit.edu	37	11	58207522	58207522	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:58207522T>G	uc010rkh.2	-	0	125	c.103A>C	c.(103-105)Atc>Ctc	p.I35L		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCAGAGTGATGAGGTAGATG	0.483000														25			9		0	0	0.000274275	0	0
CDH6	1004	broad.mit.edu	37	5	31323187	31323187	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:31323187C>T	uc003jhe.2	+	11	2505	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	715					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAGAGATTTCATTAACCAAA	0.532000														35			8		0	0	0.000442599	0	0
TRHDE	29953	broad.mit.edu	37	12	73015511	73015511	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:73015511G>A	uc001sxa.3	+	14	2550	c.2520G>A	c.(2518-2520)tgG>tgA	p.W840*		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	840					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.W840C(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTCAGATTGGATTTCCAGCA	0.388000														18			6		0	0	0.00116845	0	0
NOXA1	10811	broad.mit.edu	37	9	140328737	140328737	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:140328737C>T	uc004cmu.3	+	13	1512	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	NOXA1_uc004cmv.3_Silent_p.F452F|NOXA1_uc010nch.3_Silent_p.F403F	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	452			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	NADPH oxidase complex|cytoplasm	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CCAAGTGCTTCGTGGTCCCCG	0.652000														97			28		0	0	0.000279167	0	0
BAIAP3	8938	broad.mit.edu	37	16	1396267	1396267	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:1396267G>A	uc002clk.2	+	24	2661	c.2503G>A	c.(2503-2505)Ggg>Agg	p.G835R	BAIAP3_uc010uuz.2_Missense_Mutation_p.G800R|BAIAP3_uc010uva.2_Missense_Mutation_p.G772R|BAIAP3_uc021tag.1_Missense_Mutation_p.G777R|BAIAP3_uc002clj.3_Missense_Mutation_p.G817R|BAIAP3_uc010uvc.1_Missense_Mutation_p.G764R	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	835					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GGGGCCCGAGGGGGTGCTCCC	0.682000														24			13		0	0	0.00010058	0	0
OR4K5	79317	broad.mit.edu	37	14	20389309	20389309	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:20389309C>T	uc010tkw.2	+	0	544	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTGATCTTCCTCGAGTCAC	0.423000														107			13		0	0	0.000219431	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515368	140515368	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140515368C>T	uc003liq.3	+	0	569	c.352C>T	c.(352-354)Caa>Taa	p.Q118*		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	118	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGTTTTTTCAAACTGATCT	0.468000														58			16		0	0	0.000958276	0	0
LPAR1	1902	broad.mit.edu	37	9	113704021	113704021	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:113704021C>T	uc011lwo.2	-	1	478	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	LPAR1_uc004bfa.3_Missense_Mutation_p.R158Q|LPAR1_uc011lwm.2_Missense_Mutation_p.R159Q|LPAR1_uc004bfc.3_Missense_Mutation_p.R158Q|LPAR1_uc011lwn.2_Missense_Mutation_p.R140Q|LPAR1_uc004bfb.3_Missense_Mutation_p.R158Q|LPAR1_uc010mub.3_Missense_Mutation_p.R158Q	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	158					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.R158W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GTTGCTCATCCGTGTGTGGAG	0.542000														56			18		0	0	0.00074312	0	0
HMGCL	3155	broad.mit.edu	37	1	24144068	24144068	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:24144068G>A	uc001bib.3	-	2	194	c.150C>T	c.(148-150)atC>atT	p.I50I	HMGCL_uc010oec.2_Silent_p.I50I|HMGCL_uc001bic.3_Silent_p.I25I|HMGCL_uc009vqs.1_Silent_p.I50I|HMGCL_uc021oii.1_5'UTR	NM_000191	NP_000182	P35914	HMGCL_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	50					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GAGTAGATACGATATTCTATA	0.398000														45			8		0	0	0.000274275	0	0
BC128131	0	broad.mit.edu	37	19	23159845	23159845	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:23159845C>T	uc002nqz.1	-	1	128	c.102G>A	c.(100-102)gtG>gtA	p.V34V	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		TTCTCAATATCACTTTTTGGA	0.328000														21			7		0	0	8.12818e-05	0	0
DENND5A	23258	broad.mit.edu	37	11	9171741	9171741	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:9171741G>A	uc001mhl.3	-	14	2879	c.2622C>T	c.(2620-2622)atC>atT	p.I874I	DENND5A_uc001mhk.3_Silent_p.I217I|DENND5A_uc010rbw.2_Silent_p.I874I|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	874	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGATTTCCCCGATGTTCTGGA	0.488000														90			26		0	0	0.000491102	0	0
PRKACG	5568	broad.mit.edu	37	9	71628457	71628457	+	Silent	SNP	C	T	T	rs3750373		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:71628457C>T	uc004agy.3	-	0	583	c.552G>A	c.(550-552)acG>acA	p.T184T		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	184	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACCGAAGTCCGTCACCTGCA	0.617000														14			5		0	0	0.00116845	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874620	88874621	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:88874620_88874621GG>TT	uc002stc.4	-	12	2682_2683	c.2380_2381CC>AA	c.(2380-2382)cct>AAt	p.P794N		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	794	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CCTTACATAAGGAGAAGCTTCA	0.446000														547			13		0	0	6.4e-05	0	0
AK7	122481	broad.mit.edu	37	14	96917817	96917817	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:96917817G>A	uc001yfn.2	+	9	1052	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	336					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTGTGAAGGAGAATTTTAATA	0.373000														37			16		0	0	0.000958276	0	0
NFIX	4784	broad.mit.edu	37	19	13186433	13186433	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:13186433C>T	uc010xmx.2	+	5	980	c.927C>T	c.(925-927)tcC>tcT	p.S309S	NFIX_uc002mwd.3_Silent_p.S301S|NFIX_uc002mwe.3_Silent_p.S293S|NFIX_uc002mwf.3_Silent_p.S304S|NFIX_uc002mwg.2_Silent_p.S300S			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	301					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CAGGCCGTTCCCCAGCAGCTG	0.612000														18			6		0	0	0.00116845	0	0
BTK	695	broad.mit.edu	37	X	100609665	100609665	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:100609665C>A	uc010nno.2	-	15	1919	c.1686G>T	c.(1684-1686)ttG>ttT	p.L562F	BTK_uc004ehf.2_Missense_Mutation_p.L28F|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Non-coding_Transcript|BTK_uc010nnj.2_Intron|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.L98F|BTK_uc004ehg.2_Missense_Mutation_p.L528F|BTK_uc010nnn.2_Missense_Mutation_p.L352F|BTK_uc004ehh.1_Non-coding_Transcript	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	528	Protein kinase.		R -> P (in XLA; dbSNP:rs28935176).|R -> W (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GATCGTTTACCAAACAGTTTC	0.458000									Agammaglobulinemia, X-linked					191			8		0.000274275	0.00235345	0.000274275	1	0
F8	2157	broad.mit.edu	37	X	154194290	154194290	+	Silent	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:154194290T>C	uc004fmt.3	-	8	1569	c.1398A>G	c.(1396-1398)ggA>ggG	p.G466G		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	466	F5/8 type A 2.|Plastocyanin-like 3.		G -> E (in HEMA; severe sporadic).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTCCCAAGATTCCTGATTCAT	0.403000														108			33		0	0	0.00128727	0	0
ARID1A	8289	broad.mit.edu	37	1	27057924	27057924	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:27057924C>T	uc001bmv.1	+	2	2005	c.1632C>T	c.(1630-1632)caC>caT	p.H544H	ARID1A_uc001bmt.1_Silent_p.H544H|ARID1A_uc001bmu.1_Silent_p.H544H|ARID1A_uc001bmw.1_Silent_p.H161H	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	544					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q543*(3)|p.Q543fs*79(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CACAGCAGCACCCCCAGAGCC	0.647000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									80			33		0	0	0.000339439	0	0
FGF23	8074	broad.mit.edu	37	12	4479756	4479756	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:4479756T>C	uc001qmq.1	-	2	655	c.509A>G	c.(508-510)aAc>aGc	p.N170S		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	170					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TATGGGGGTGTTGAAGTGAAT	0.682000														42			14		0	0	0.000566183	0	0
POTEE	445582	broad.mit.edu	37	2	132021467	132021467	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:132021467G>A	uc002tsn.2	+	14	2491	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.K413K|POTEE_uc002tsl.2_Silent_p.K395K|POTEE_uc010fmy.1_Silent_p.K277K	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	813	Actin-like.						ATP binding										TGAACCCCAAGGCCAACCGCG	0.607000														109			35		0	0	0.000589545	0	0
OR51S1	119692	broad.mit.edu	37	11	4869963	4869963	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:4869963C>T	uc010qyo.2	-	0	476	c.476G>A	c.(475-477)cGa>cAa	p.R159Q		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159Q(4)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCAGGCATCGAAAAGAAAT	0.542000														101			27		0	0	0.000878237	0	0
PRKAB2	5565	broad.mit.edu	37	1	146639400	146639400	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:146639400A>G	uc001epe.3	-	2	414	c.269T>C	c.(268-270)gTc>gCc	p.V90A	PRKAB2_uc010ozm.2_Intron|PRKAB2_uc010ozn.2_Intron|PRKAB2_uc009wjf.1_Missense_Mutation_p.V90A	NM_005399	NP_005390	O43741	AAKB2_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 2 non-catalytic subunit (PRKAB2), mRNA.	90					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	AGAGATGAAGACCTCCTTGCC	0.502000														97			65		0	0	0.000781405	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25144805	25144805	+	RNA	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:25144805C>T	uc001upm.3	+	3		c.346C>T								Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		GGGTCCTGGTCCTGCCATGGG	0.463000														43			15		0	0	0.000219431	0	0
RYR1	6261	broad.mit.edu	37	19	39010014	39010014	+	Silent	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:39010014G>C	uc002oit.3	+	66	10309	c.10179G>C	c.(10177-10179)ctG>ctC	p.L3393L	RYR1_uc002oiu.3_Silent_p.L3393L|RYR1_uc002oiv.1_Silent_p.L313L|RYR1_uc010xuf.1_Silent_p.L313L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3393					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCGAGCTGCTGGTGCGGGACG	0.677000														4			3		0	0	6.4e-05	0	0
SPATA22	84690	broad.mit.edu	37	17	3343529	3343529	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:3343529G>A	uc002fvm.3	-	8	1242	c.1004C>T	c.(1003-1005)tCt>tTt	p.S335F	SPATA22_uc010vrg.2_Missense_Mutation_p.S319F|SPATA22_uc010vrf.2_3'UTR|SPATA22_uc002fvo.3_Missense_Mutation_p.S335F|SPATA22_uc002fvn.3_Missense_Mutation_p.S335F|SPATA22_uc002fvp.3_Missense_Mutation_p.S335F|SPATA22_uc010ckf.3_Missense_Mutation_p.S292F	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	335										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TTCAGAAACAGACGCCGGTCT	0.373000														53			18		0	0	0.00121646	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30683225	30683225	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:30683225C>T	uc003ahi.3	-	8	1060	c.943G>A	c.(943-945)Gac>Aac	p.D315N	TBC1D10A_uc003ahd.3_Missense_Mutation_p.D142N|TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc010gvr.3_Missense_Mutation_p.D29N|TBC1D10A_uc010gvs.2_Missense_Mutation_p.D29N	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 2, mRNA.	0						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGGTAAATGTCGAACTCCTGG	0.627000											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			10		0	0	0.000442599	0	0
ARMC4	55130	broad.mit.edu	37	10	28149619	28149619	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:28149619C>T	uc009xky.3	-	18	3054	c.2956G>A	c.(2956-2958)Gcc>Acc	p.A986T	ARMC4_uc010qds.2_Missense_Mutation_p.A511T|ARMC4_uc010qdt.2_Missense_Mutation_p.A678T|ARMC4_uc001itz.3_Missense_Mutation_p.A986T	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	986							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGGTACAAGGCCTGAGCTGTC	0.493000														54			14		0	0	0.000422831	0	0
OR51A7	119687	broad.mit.edu	37	11	4929383	4929383	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:4929383C>T	uc010qyq.2	+	0	784	c.784C>T	c.(784-786)Cac>Tac	p.H262Y		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCATGCATCACTTTGCCAA	0.488000														163			44		0	0	0.000781405	0	0
ZNF85	7639	broad.mit.edu	37	19	21117843	21117843	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:21117843C>T	uc002npg.4	+	2	367	c.219C>T	c.(217-219)gcC>gcT	p.A73A	ZNF85_uc002npf.3_Non-coding_Transcript|ZNF85_uc002nph.1_Non-coding_Transcript|ZNF85_uc010ecn.3_Intron|ZNF85_uc010eco.3_5'Flank|ZNF85_uc002npi.3_5'Flank	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	73	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TCATGGTGGCCAAACCCACAG	0.428000														10			8		0	0	0.000157383	0	0
RFX3	5991	broad.mit.edu	37	9	3248151	3248151	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:3248151C>T	uc003zhr.3	-	15	2161	c.1849G>A	c.(1849-1851)Gct>Act	p.A617T	RFX3_uc010mhd.3_Missense_Mutation_p.A617T|RFX3_uc003zhs.1_Missense_Mutation_p.A617T	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	617					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AAGCTAGCAGCACTGCGTAAG	0.423000														27			6		0	0	8.12818e-05	0	0
HNRNPK	3190	broad.mit.edu	37	9	86593125	86593125	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:86593125T>G	uc004ang.4	-	2	267	c.43A>C	c.(43-45)Acc>Ccc	p.T15P	HNRNPK_uc011lsw.2_5'Flank|HNRNPK_uc004and.4_5'Flank|HNRNPK_uc004anf.4_Missense_Mutation_p.T15P|HNRNPK_uc004anh.4_Missense_Mutation_p.T15P|HNRNPK_uc011lsx.2_Missense_Mutation_p.T15P|HNRNPK_uc004anl.4_Missense_Mutation_p.T15P|HNRNPK_uc004anm.4_Missense_Mutation_p.T15P|RMI1_uc004anq.4_5'Flank|RMI1_uc004anr.4_5'Flank|RMI1_uc004anp.4_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	15	Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TCACCATTGGTTTCAGTGTTA	0.333000														79			14		0	0	0.000566183	0	0
TAS2R50	259296	broad.mit.edu	37	12	11139510	11139510	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:11139510G>A	uc001qzl.2	-	1	1	c.-51_splice	c.e1-1		PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	Homo sapiens taste receptor, type 2, member 50 (TAS2R50), mRNA.						sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						CACTGGTTGTGATTTCTTTAA	0.279000														17			5		0	0	0.000602214	0	0
C8B	732	broad.mit.edu	37	1	57415232	57415232	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:57415232T>C	uc001cyp.3	-	5	927	c.860A>G	c.(859-861)cAt>cGt	p.H287R	C8B_uc010oon.2_Missense_Mutation_p.H225R|C8B_uc010ooo.2_Missense_Mutation_p.H235R	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	287	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTTACAGTATGAGAGAATCG	0.338000														31			11		0	0	0.00010058	0	0
GPR179	440435	broad.mit.edu	37	17	36484409	36484409	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:36484409C>T	uc002hpz.3	-	10	5064	c.5043G>A	c.(5041-5043)gtG>gtA	p.V1681V		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1681						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTTGCTTCCCACACTGCCTG	0.587000														78			35		0	0	0.00111076	0	0
EIF4G2	1982	broad.mit.edu	37	11	10822178	10822178	+	Missense_Mutation	SNP	T	C	C	rs141188640	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:10822178T>C	uc001mjb.3	-	16	2195	c.1043A>G	c.(1042-1044)gAa>gGa	p.E348G	EIF4G2_uc009ygf.3_Missense_Mutation_p.E554G|EIF4G2_uc001mjc.3_Missense_Mutation_p.E348G|EIF4G2_uc001mjd.3_Missense_Mutation_p.E516G	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	554					RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.R347K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATTTAGATATTCAGTCACAAC	0.343000														59			26		0	0	0.00127121	0	0
DDX60L	91351	broad.mit.edu	37	4	169374306	169374306	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:169374306C>T	uc021xuh.1	-	6	1075	c.965G>A	c.(964-966)tGg>tAg	p.W322*	DDX60L_uc003irq.4_Nonsense_Mutation_p.W322*|DDX60L_uc003irr.1_Nonsense_Mutation_p.W322*|DDX60L_uc003irs.1_Nonsense_Mutation_p.W49*	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	322							ATP binding|ATP-dependent helicase activity|RNA binding	p.W322_L330delWIRNSDSFL(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GTTCCTAATCCAAGAGCATGT	0.388000														40			6		0	0	0.000274275	0	0
MET	4233	broad.mit.edu	37	7	116380009	116380009	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:116380009G>A	uc003vij.3	+	3	1585	c.1398G>A	c.(1396-1398)gtG>gtA	p.V466V	MET_uc022akk.1_Silent_p.V466V|MET_uc010lkh.3_Silent_p.V466V|MET_uc011knc.1_Silent_p.V466V|MET_uc011knd.2_Silent_p.V466V|MET_uc011knf.2_Silent_p.V466V|MET_uc011kne.2_Silent_p.V466V|MET_uc011kng.1_Silent_p.V466V|MET_uc011knh.1_Silent_p.V466V|MET_uc011kni.2_Silent_p.V466V|MET_uc011knj.2_Silent_p.V36V|MET_uc011kna.1_Silent_p.V466V|MET_uc011knb.1_Silent_p.V466V	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	466	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			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)			TTTAGGTTGTGGTTTCTCGAT	0.373000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					106			44		0	0	0.000781405	0	0
OR5P2	120065	broad.mit.edu	37	11	7817638	7817638	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:7817638C>T	uc001mfp.1	-	0	852	c.852G>A	c.(850-852)ctG>ctA	p.L284L		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCTGTAGATCAGGGGGTTCA	0.413000														40			14		0	0	0.000219431	0	0
NPR3	4883	broad.mit.edu	37	5	32774912	32774912	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:32774912G>A	uc003jhv.3	+	3	1603	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	NPR3_uc010iuo.3_Silent_p.G170G|NPR3_uc003jhw.2_Silent_p.G170G|NPR3_uc003jhu.3_Silent_p.G386G	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	386					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AGGATGGAGGGAAAATTATAC	0.443000														114			32		0	0	0.000339439	0	0
TLR7	51284	broad.mit.edu	37	X	12905004	12905004	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:12905004C>T	uc004cvc.3	+	2	1516	c.1377C>T	c.(1375-1377)gtC>gtT	p.V459V		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	459					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity	p.Q458K(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AACCCCAGGTCCTGGAACAAT	0.368000														134			30		0	0	0.000409698	0	0
KCTD18	130535	broad.mit.edu	37	2	201371664	201371664	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:201371664G>A	uc002uvs.3	-	1	593	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	KCTD18_uc002uvt.3_Missense_Mutation_p.R26W|KCTD18_uc002uvu.1_Missense_Mutation_p.R26W	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	26	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GACTCCCGCCGGGCTGTGTAA	0.498000														24			25		0	0	0.000339439	0	0
OR51E2	81285	broad.mit.edu	37	11	4703875	4703875	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:4703875G>A	uc001lzk.2	-	1	311	c.67C>T	c.(67-69)Cat>Tat	p.H23Y	OR51E2_uc021qcr.1_Missense_Mutation_p.H23Y	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACCCAGAAATGGGCTTTCTCT	0.517000														38			14		0	0	0.000308642	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95513847	95513847	+	RNA	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:95513847G>C	uc010fhp.3	-	4		c.558C>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TGCTTAAGAAGGATACTGACA	0.353000														571			51		0	0	0.000781405	0	0
TBX4	9496	broad.mit.edu	37	17	59557581	59557581	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:59557581G>A	uc010ddo.3	+	7	1085	c.922G>A	c.(922-924)Ggg>Agg	p.G308R	TBX4_uc002izi.3_Missense_Mutation_p.G308R|TBX4_uc010woy.2_Missense_Mutation_p.G308R	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	308					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G308E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCACGAGAACGGGGCACACTC	0.647000														43			18		0	0	0.000295444	0	0
MUC16	94025	broad.mit.edu	37	19	9083352	9083352	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:9083352C>T	uc002mkp.3	-	0	8667	c.8463G>A	c.(8461-8463)atG>atA	p.M2821I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2821	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.M2821I(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCTGGGTTCATGGTCAGAG	0.502000														31			9		0	0	0.000274275	0	0
GPT2	84706	broad.mit.edu	37	16	46943703	46943703	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:46943703C>T	uc002eel.3	+	5	778	c.684C>T	c.(682-684)gcC>gcT	p.A228A	GPT2_uc002eem.3_Silent_p.A128A	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	228					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGCTCGACGCCATCCAGGTGA	0.572000														55			22		0	0	0.000375601	0	0
BEST2	54831	broad.mit.edu	37	19	12865695	12865695	+	Silent	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:12865695T>C	uc002mux.3	+	3	486	c.486T>C	c.(484-486)ttT>ttC	p.F162F		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	162					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CTCCAGGGTTTATGACCCGCG	0.617000														11			5		0	0	0.00116845	0	0
KIF23	9493	broad.mit.edu	37	15	69730701	69730701	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:69730701A>C	uc002asb.3	+	14	1848	c.1670A>C	c.(1669-1671)gAa>gCa	p.E557A	KIF23_uc002asc.3_Missense_Mutation_p.E557A|KIF23_uc010bii.3_Missense_Mutation_p.E447A|KIF23_uc010ukc.2_Missense_Mutation_p.E374A	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	557					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CAGAAATTGGAAATAGAACGA	0.323000														68			21		0	0	0.00047179	0	0
BBX	56987	broad.mit.edu	37	3	107491930	107491930	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:107491930G>A	uc010hpr.3	+	10	1689	c.1362G>A	c.(1360-1362)aaG>aaA	p.K454K	BBX_uc003dwk.4_Silent_p.K454K|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Silent_p.K475K|BBX_uc003dwm.4_Silent_p.K454K|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	454	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AAAAGAAAAAGAAGAAAAGCA	0.393000														51			13		0	0	0.000151284	0	0
KCNH5	27133	broad.mit.edu	37	14	63316527	63316527	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:63316527G>A	uc001xfx.3	-	7	1464	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	KCNH5_uc001xfy.3_Silent_p.F471F|KCNH5_uc001xfz.1_Silent_p.F413F	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	471					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATTTGCTGGAAAATTGTTG	0.348000														51			10		0	0	0.000673444	0	0
C2orf71	388939	broad.mit.edu	37	2	29293482	29293482	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:29293482C>T	uc002rmt.2	-	0	3646	c.3646G>A	c.(3646-3648)Gaa>Aaa	p.E1216K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1216					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGCTGGGATTCATAAGAGGTG	0.602000														68			21		0	0	0.000375601	0	0
DEFB128	245939	broad.mit.edu	37	20	168682	168682	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:168682C>T	uc002wcz.1	-	1	127	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	Homo sapiens defensin, beta 128 (DEFB128), mRNA.	43					defense response to bacterium	extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CATCCTATTTCATATCTTTCT	0.373000														93			14		0	0	0.000566183	0	0
SCN7A	6332	broad.mit.edu	37	2	167319026	167319026	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:167319026C>T	uc002udu.2	-	8	1086	c.956G>A	c.(955-957)gGa>gAa	p.G319E	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	319					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACACACATATCCTTCAGGACA	0.378000														40			10		0	0	0.000151284	0	0
NFXL1	152518	broad.mit.edu	37	4	47912912	47912912	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:47912912C>T	uc010igh.3	-	2	512	c.335G>A	c.(334-336)gGa>gAa	p.G112E	NFXL1_uc003gxp.3_Missense_Mutation_p.G112E|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.G112E	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	112						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ATCTTCATCTCCTTCTTCAGA	0.338000														44			5		0	0	0.000602214	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128862105	128862105	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:128862105G>A	uc003kvb.1	+	3	1024	c.1024G>A	c.(1024-1026)Gga>Aga	p.G342R	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	342	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTCCTATCATGGAGCAGATGC	0.393000														51			18		0	0	0.00074312	0	0
AKAP3	10566	broad.mit.edu	37	12	4736228	4736228	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:4736228C>T	uc001qnb.4	-	3	2084	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	614					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						ACCTTGGGTTCAGGGCTCTGG	0.478000														55			9		0	0	0.000673444	0	0
C10orf68	79741	broad.mit.edu	37	10	33103331	33103331	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:33103331G>A	uc001iwm.1	+	9	1108	c.872G>A	c.(871-873)gGa>gAa	p.G291E	C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwn.4_Missense_Mutation_p.G315E|C10orf68_uc010qei.1_Missense_Mutation_p.G263E|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	315										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GATGCATTTGGAAGAGATATA	0.328000														231			31		0	0	0.00058488	0	0
HEXIM2	124790	broad.mit.edu	37	17	43246746	43246746	+	RNA	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:43246746C>T	uc002iik.1	-	1		c.1474G>A			HEXIM2_uc002iih.1_Missense_Mutation_p.T144I|HEXIM2_uc010daf.1_Missense_Mutation_p.T166I|HEXIM2_uc002iii.1_Missense_Mutation_p.T144I|HEXIM2_uc002iij.1_Missense_Mutation_p.T144I			Q96MH2	HEXI2_HUMAN	Homo sapiens cDNA FLJ39466 fis, clone PROST2012353.						negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						TACAACACCACCCAGTTCCTG	0.637000														25			5		0	0	0.00116845	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226678	23226678	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:23226678C>T	uc002dlm.1	+	12	1977	c.1838C>T	c.(1837-1839)cCa>cTa	p.P613L		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	613					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CACCTGCCTCCAGCCCTAGGA	0.577000														48			11		0	0	0.000978159	0	0
SMG1	23049	broad.mit.edu	37	16	18887699	18887699	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:18887699T>C	uc002dfm.3	-	12	2000	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	SMG1_uc010bwb.3_Missense_Mutation_p.H406R	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	546	Interaction with SMG8 and SMG9.		H -> R.		DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.H542R(2)|p.H546R(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAAACAGCATGGGCTACAGC	0.333000														26			4		0	0	0.00024832	0	0
GIGYF2	26058	broad.mit.edu	37	2	233612407	233612407	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:233612407C>T	uc002vtj.4	+	4	391	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	GIGYF2_uc010zmj.1_Missense_Mutation_p.R42C|GIGYF2_uc002vtg.2_Missense_Mutation_p.R42C|GIGYF2_uc002vti.4_Missense_Mutation_p.R42C|GIGYF2_uc002vtk.4_Missense_Mutation_p.R42C|GIGYF2_uc002vth.4_Missense_Mutation_p.R42C|GIGYF2_uc010zmk.2_Non-coding_Transcript	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	42					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGCAGATTATCGTTACGGCAG	0.398000														83			36		0	0	0.00058488	0	0
DSC3	1825	broad.mit.edu	37	18	28598176	28598176	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:28598176C>T	uc002kwj.4	-	8	1279	c.1124G>A	c.(1123-1125)cGa>cAa	p.R375Q	DSC3_uc002kwi.4_Missense_Mutation_p.R375Q	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	375	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TATAGGTATTCGTAAGATTTC	0.289000														52			12		0	0	0.000151284	0	0
F8	2157	broad.mit.edu	37	X	154156856	154156856	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:154156856G>A	uc004fmt.3	-	13	5380	c.5209C>T	c.(5209-5211)Cta>Tta	p.L1737L		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1737	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTGTTTCTTAGAACATGTGGG	0.428000														19			6		0	0	8.12818e-05	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48253522	48253522	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:48253522C>T	uc002phm.2	+	2	401	c.377C>T	c.(376-378)tCc>tTc	p.S126F	GLTSCR2_uc010elk.1_5'Flank	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	126						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GAGAACACATCCAAAGTCCCT	0.542000														21			10		0	0	0.000151284	0	0
PRRT3	285368	broad.mit.edu	37	3	9991023	9991023	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:9991023C>T	uc003bul.2	-	1	907	c.777G>A	c.(775-777)gaG>gaA	p.E259E	CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript|PRRT3_uc003bum.3_Silent_p.E259E	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.	259	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						AGTACACCACCTCAACTGGGG	0.617000														56			12		0	0	0.000422831	0	0
FLT4	2324	broad.mit.edu	37	5	180050949	180050949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:180050949C>T	uc003mlz.4	-	10	1613	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	FLT4_uc003mma.4_Missense_Mutation_p.E512K|FLT4_uc003mmb.1_Missense_Mutation_p.E45K|FLT4_uc011dgy.2_Missense_Mutation_p.E512K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	512	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTCTTTCCCTCCACAAACTCG	0.607000														59			9		0	0	0.000673444	0	0
GRM6	2916	broad.mit.edu	37	5	178413137	178413137	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:178413137G>A	uc003mjr.3	-	7	2297	c.2118C>T	c.(2116-2118)tcC>tcT	p.S706S	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.S289S|GRM6_uc003mjs.1_Silent_p.S326S	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	706					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCACCTGCAGGGAGGTGAGGC	0.627000														12			6		0	0	8.12818e-05	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515473	140515473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140515473C>T	uc003liq.3	+	0	674	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	153	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTGTGTTTCCCTTAAAAAT	0.463000														52			9		0	0	0.000673444	0	0
FURIN	5045	broad.mit.edu	37	15	91424959	91424960	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:91424959_91424960GG>TT	uc002bpu.1	+	15	2452_2453	c.2236_2237GG>TT	c.(2236-2238)ggg>TTg	p.G746L	FES_uc002bpv.3_5'Flank|FES_uc010uqj.2_5'Flank|FES_uc010uqk.2_5'Flank	NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	746					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.R745L(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TAGTTTTCGGGGGGTGAAGGTG	0.624000														460			12		0	0	6.4e-05	0	0
WWC1	23286	broad.mit.edu	37	5	167833291	167833291	+	Missense_Mutation	SNP	G	A	A	rs78544296		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:167833291G>A	uc003lzu.3	+	5	772	c.679G>A	c.(679-681)Gct>Act	p.A227T	WWC1_uc003lzv.3_Missense_Mutation_p.A227T|WWC1_uc011den.2_Missense_Mutation_p.A227T|WWC1_uc003lzw.3_Missense_Mutation_p.A26T	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	227					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CATCAAAAAGGCTATTACCTG	0.428000														71			24		0	0	0.00047179	0	0
AQR	9716	broad.mit.edu	37	15	35192853	35192853	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:35192853T>C	uc001ziv.3	-	19	2394	c.2213A>G	c.(2212-2214)gAa>gGa	p.E738G		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	738						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGCAGGGTCTTCTACAGTTAC	0.428000														48			16		0	0	0.000308642	0	0
USP17L2	377630	broad.mit.edu	37	8	11994895	11994895	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:11994895G>A	uc003wvc.1	-	0	1375	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	459					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTGGGAGGCAGGGTACCTTCG	0.468000														107			19		0	0	0.00074312	0	0
CCDC74B	91409	broad.mit.edu	37	2	130899916	130899916	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:130899916G>A	uc010yzw.1	-	1	1384	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	CCDC74B_uc002tqm.1_Missense_Mutation_p.P112S|CCDC74B_uc002tqn.1_Intron|CCDC74B_uc010yzx.1_3'UTR			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	112										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCGCCCAAGGGAGCAGAGGCC	0.647000														30			5		0	0	0.000219431	0	0
CEPT1	10390	broad.mit.edu	37	1	111725439	111725439	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:111725439C>T	uc001eah.1	+	6	1073	c.865C>T	c.(865-867)Cct>Tct	p.P289S	CEPT1_uc001eai.1_Missense_Mutation_p.P289S|CEPT1_uc001eaj.1_Missense_Mutation_p.P289S	NM_001007794	NP_006081	Q9Y6K0	CEPT1_HUMAN	Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA.	289						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TGTCCTTTCTCCTTTTCTCCA	0.383000														64			16		0	0	0.000175454	0	0
MRPL54	116541	broad.mit.edu	37	19	3762665	3762665	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:3762665G>A	uc002lyq.4	+	1	1	c.-33_splice	c.e1-1		APBA3_uc002lyp.1_5'Flank	NM_172251	NP_758455	Q6P161	RM54_HUMAN	Homo sapiens mitochondrial ribosomal protein L54 (MRPL54), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCTTCCGGAAACGTGCAC	0.622000														61			23		0	0	0.000586117	0	0
NBPF1	55672	broad.mit.edu	37	1	16892177	16892177	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:16892177G>A	uc009vos.1	-	26	3903	c.3015C>T	c.(3013-3015)tcC>tcT	p.S1005S	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	1005	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATGCATAAAAGGAACTTCCAT	0.448000														695			14		0	0	0.000422831	0	0
NAALAD2	10003	broad.mit.edu	37	11	89880517	89880517	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:89880517C>T	uc001pdf.4	+	2	323	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	NAALAD2_uc009yvx.3_Missense_Mutation_p.H72Y|NAALAD2_uc009yvy.3_Missense_Mutation_p.H72Y|NAALAD2_uc001pdd.2_Missense_Mutation_p.H72Y|NAALAD2_uc001pde.3_Missense_Mutation_p.H72Y	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	72					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAAGCTTCCTCATCTGGCAGG	0.363000														38			12		0	0	0.000151284	0	0
SPESP1	246777	broad.mit.edu	37	15	69238016	69238016	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:69238016C>T	uc002arn.2	+	1	297	c.143C>T	c.(142-144)cCc>cTc	p.P48L	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	48					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CGAAGTGTTCCCTCTGGGGAG	0.368000														90			28		0	0	0.000339439	0	0
DDB1	1642	broad.mit.edu	37	11	61091584	61091584	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:61091584C>A	uc001nrc.4	-	6	1014	c.788G>T	c.(787-789)cGa>cTa	p.R263L	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.R263L|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Missense_Mutation_p.R263L|DDB1_uc009ynl.1_Missense_Mutation_p.R150L	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	263	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.R263Q(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AGGGTCCACTCGATTGTGGCA	0.498000								Nucleotide excision repair (NER)						106			5		0.00116845	0.00996977	0.00116845	1	0
BHLHB9	80823	broad.mit.edu	37	X	102004755	102004755	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:102004755A>G	uc022cbi.1	+	0	832	c.832A>G	c.(832-834)Atc>Gtc	p.I278V	BHLHB9_uc010nog.3_Missense_Mutation_p.I278V|BHLHB9_uc011mrq.2_Missense_Mutation_p.I278V|BHLHB9_uc011mrr.2_Missense_Mutation_p.I278V|BHLHB9_uc011mrs.2_Missense_Mutation_p.I278V|BHLHB9_uc011mrt.2_Missense_Mutation_p.I278V|BHLHB9_uc004ejo.3_Missense_Mutation_p.I278V|BHLHB9_uc011mru.2_Missense_Mutation_p.I278V|BHLHB9_uc011mrv.2_Missense_Mutation_p.I278V	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	278						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTCACAGCCTATCCCTGAGTG	0.483000														68			20		0	0	0.000175454	0	0
ZNF566	84924	broad.mit.edu	37	19	36940055	36940055	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:36940055G>A	uc010xtf.2	-	4	1219	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	ZNF566_uc002oea.4_Missense_Mutation_p.H361Y|ZNF566_uc010xte.2_Missense_Mutation_p.H361Y|ZNF566_uc002oeb.4_Missense_Mutation_p.H361Y|ZNF566_uc002oec.4_Missense_Mutation_p.H257Y|ZNF566_uc010xtg.2_Missense_Mutation_p.H257Y	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TCCCCAGTATGAATTCTCTGA	0.383000														33			13		0	0	0.000219431	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734861	176734861	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:176734861C>T	uc001gkz.3	+	14	5375	c.4211C>T	c.(4210-4212)gCt>gTt	p.A1404V	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1404	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTGATCATGCTGATGTGGTG	0.507000														70			31		0	0	0.000814825	0	0
SCN5A	6331	broad.mit.edu	37	3	38674787	38674787	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:38674787G>A	uc021wvo.1	-	0	64	c.12C>T	c.(10-12)ttC>ttT	p.F4F	SCN5A_uc021wvk.1_Silent_p.F4F|SCN5A_uc021wvl.1_Silent_p.F4F|SCN5A_uc021wvm.1_Silent_p.F4F|SCN5A_uc021wvn.1_Silent_p.F4F|SCN5A_uc021wvp.1_Silent_p.F4F|SCN5A_uc021wvq.1_Silent_p.F4F|SCN5A_uc021wvr.1_Silent_p.F4F|SCN5A_uc021wvs.1_Silent_p.F4F|SCN5A_uc021wvt.1_Silent_p.F4F|SCN5A_uc021wvu.1_Silent_p.F4F|SCN5A_uc021wvv.1_Silent_p.F4F|SCN5A_uc021wvx.1_Missense_Mutation_p.S7F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	4					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGGTAATAGGAAGTTTGCCA	0.587000														36			13		0	0	0.000308642	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602210	58602210	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:58602210C>T	uc001nnd.4	-	5	708	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	GLYATL2_uc009ymq.3_Missense_Mutation_p.E193K	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	193						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AGGCAGCGTTCAATATATTTC	0.458000														28			12		0	0	0.00010058	0	0
FLT3	2322	broad.mit.edu	37	13	28631575	28631575	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:28631575C>T	uc001urw.3	-	3	475	c.393G>A	c.(391-393)ttG>ttA	p.L131L	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.L131L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	131					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGTCATTTTCAAAATGACCA	0.323000			"""Mis, O"""		"""AML, ALL"""									47			13		0	0	0.000422831	0	0
MLL2	8085	broad.mit.edu	37	12	49434137	49434137	+	Silent	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:49434137G>C	uc001rta.4	-	30	7416	c.7416C>G	c.(7414-7416)ccC>ccG	p.P2472P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2472	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGGGGGCTGGGGTCGGGGTG	0.662000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				79			20		0	0	0.00121646	0	0
PRAME	23532	broad.mit.edu	37	22	22890787	22890787	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:22890787A>G	uc002zwf.3	-	4	1388	c.1232T>C	c.(1231-1233)tTa>tCa	p.L411S	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.L395S|PRAME_uc010gtr.3_Missense_Mutation_p.L411S|PRAME_uc002zwg.3_Missense_Mutation_p.L411S|PRAME_uc002zwh.3_Missense_Mutation_p.L411S|PRAME_uc002zwi.3_Missense_Mutation_p.L411S|PRAME_uc002zwj.3_Missense_Mutation_p.L411S|PRAME_uc002zwk.3_Missense_Mutation_p.L411S	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	411					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GTAGAAGCTTAAGGTTGTAAG	0.567000														63			19		0	0	0.000958276	0	0
PSG4	5672	broad.mit.edu	37	19	43411155	43411155	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:43411155G>A	uc002ovj.1	-	4	1258	c.1159C>T	c.(1159-1161)Cat>Tat	p.H387Y	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.H227Y|PSG4_uc002ovg.1_Missense_Mutation_p.H387Y	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	388	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGCCCGCTATGATTTGTAGTA	0.453000														209			103		0	0	0.000781405	0	0
ATG2B	55102	broad.mit.edu	37	14	96792033	96792033	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:96792033G>A	uc001yfi.3	-	14	2755	c.2390C>T	c.(2389-2391)tCa>tTa	p.S797L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	797										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCTGGGGTTGATCCTCCTAT	0.353000														26			12		0	0	0.000151284	0	0
NISCH	11188	broad.mit.edu	37	3	52506374	52506374	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:52506374C>T	uc003ded.4	+	5	763	c.629C>T	c.(628-630)cCg>cTg	p.P210L	NISCH_uc003dec.1_Missense_Mutation_p.P210L	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	210	Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAGCTCCTGCCGTTCGACCTA	0.527000											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		88			27		0	0	0.000692331	0	0
KCNN1	3780	broad.mit.edu	37	19	18100600	18100600	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:18100600G>A	uc002nht.3	+	7	1556	c.1246G>A	c.(1246-1248)Gac>Aac	p.D416N	KCNN1_uc010xqa.1_Missense_Mutation_p.D416N	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	416	Calmodulin-binding (By similarity).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GAAGAAGCCAGACCAAGCCCG	0.532000														82			28		0	0	0.000878237	0	0
NANOS3	342977	broad.mit.edu	37	19	13988132	13988132	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:13988132G>A	uc002mxj.4	+	0	70	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.	24					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAGTGGGAAAGAGGGTCCTGA	0.627000														101			33		0	0	0.000491102	0	0
CBLB	868	broad.mit.edu	37	3	105422976	105422976	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:105422976G>A	uc003dwc.3	-	10	1771	c.1449C>T	c.(1447-1449)tcC>tcT	p.S483S	CBLB_uc011bhi.2_Silent_p.S505S|CBLB_uc003dwd.2_Silent_p.S483S|CBLB_uc003dwe.2_Silent_p.S483S	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	483	Pro-rich.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CAAGGGGAGAGGATCCTGGTG	0.517000			Mis S		AML									91			22		0	0	0.00127121	0	0
LSM3	27258	broad.mit.edu	37	3	14239577	14239577	+	Silent	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:14239577T>C	uc003byn.3	+	3	403	c.270T>C	c.(268-270)gaT>gaC	p.D90D	AX747368_uc003byo.1_5'Flank	NM_014463	NP_055278	P62310	LSM3_HUMAN	Homo sapiens LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM3), mRNA.	90					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	RNA binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						TCCGGGGAGATGGCGTTGTCC	0.413000														60			25		0	0	0.00106085	0	0
OR4C12	283093	broad.mit.edu	37	11	50003196	50003196	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:50003196T>A	uc010ria.2	-	0	876	c.842A>T	c.(841-843)aAt>aTt	p.N281I		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GACCACGGGATTTAACATTGG	0.388000														27			11		0	0	0.000978159	0	0
CYLC2	1539	broad.mit.edu	37	9	105767362	105767362	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:105767362G>A	uc004bbs.2	+	4	519	c.449G>A	c.(448-450)gGa>gAa	p.G150E		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	150	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				atagagaaaggaaaagaagaa	0.358000														17			7		0	0	8.12818e-05	0	0
TTBK2	146057	broad.mit.edu	37	15	43045125	43045125	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:43045125G>A	uc001zqo.2	-	13	2758	c.2319C>T	c.(2317-2319)ctC>ctT	p.L773L	TTBK2_uc010bcy.2_Silent_p.L704L	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	773					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTCCCCAGGGAGATTTTCAA	0.398000														95			43		0	0	0.000374591	0	0
ZNF530	348327	broad.mit.edu	37	19	58117462	58117462	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:58117462C>T	uc002qpk.2	+	2	789	c.569C>T	c.(568-570)cCc>cTc	p.P190L	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_5'Flank	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGGTGACTCCCACCATTGAG	0.488000														92			25		0	0	0.00127121	0	0
SYT1	6857	broad.mit.edu	37	12	79689912	79689912	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:79689912C>T	uc001sys.3	+	7	1209	c.538C>T	c.(538-540)Cct>Tct	p.P180S	SYT1_uc001syt.3_Missense_Mutation_p.P180S|SYT1_uc001syu.3_Missense_Mutation_p.P177S|SYT1_uc001syv.3_Missense_Mutation_p.P180S	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	180	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.P180S(2)|p.P180L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CACATCTGATCCTTACGTGAA	0.423000														46			18		0	0	0.000958276	0	0
ZNF653	115950	broad.mit.edu	37	19	11609136	11609136	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:11609136G>A	uc002mrz.2	-	1	455	c.318C>T	c.(316-318)gtC>gtT	p.V106V		NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GCTTTTTGGGGACCTGCTCCC	0.587000														110			31		0	0	0.000953801	0	0
BRE	9577	broad.mit.edu	37	2	28210913	28210913	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:28210913G>T	uc002rls.3	+	3	511	c.259G>T	c.(259-261)Gga>Tga	p.G87*	BRE_uc002rlp.1_Nonsense_Mutation_p.G87*|BRE_uc002rlq.3_Nonsense_Mutation_p.G87*|BRE_uc002rlr.3_Nonsense_Mutation_p.G87*|BRE_uc002rlt.3_Nonsense_Mutation_p.G87*|BRE_uc002rlu.3_Nonsense_Mutation_p.G87*|BRE_uc002rlv.3_5'UTR	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	87	UEV-like 1.				G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTTTATCTTTGGAGAAGATGC	0.403000														308			8		0.000219431	0.00188498	0.000219431	1	0
CYP4F11	57834	broad.mit.edu	37	19	16034789	16034789	+	Missense_Mutation	SNP	G	A	A	rs147948717		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:16034789G>A	uc002nbu.2	-	6	787	c.751C>T	c.(751-753)Cct>Tct	p.P251S	CYP4F11_uc010eab.1_Missense_Mutation_p.P251S|CYP4F11_uc002nbt.2_Missense_Mutation_p.P251S	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	251					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCCATCAGGAGTGAGATAA	0.557000														74			26		0	0	0.000586117	0	0
FBXO10	26267	broad.mit.edu	37	9	37541368	37541368	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:37541368C>T	uc004aac.3	-	1	526	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	FBXO10_uc004aab.3_Missense_Mutation_p.R133Q|FBXO10_uc004aad.3_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	133						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GAGCACAATTCGGTCATACAG	0.577000														111			31		0	0	0.000409698	0	0
NYAP2	57624	broad.mit.edu	37	2	226378250	226378250	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:226378250G>A	uc002voe.2	+	2	560	c.385G>A	c.(385-387)Gat>Aat	p.D129N	NYAP2_uc010fxa.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	129																	GGGCACAGACGATGACAGCAG	0.572000														31			8		0	0	0.000274275	0	0
HMGCS2	3158	broad.mit.edu	37	1	120300003	120300003	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:120300003G>A	uc001eid.3	-	4	997	c.909C>T	c.(907-909)ccC>ccT	p.P303P	HMGCS2_uc010oxj.2_Silent_p.P261P|HMGCS2_uc021osw.1_Silent_p.P69P|HMGCS2_uc021osx.1_Silent_p.P156P	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	303					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TCTTGCAAAAGGGTGTATGAA	0.522000														208			191		0	0	0.000781405	0	0
DPYSL4	10570	broad.mit.edu	37	10	134010400	134010400	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:134010400G>A	uc009ybb.3	+	4	668	c.514G>A	c.(514-516)Gac>Aac	p.D172N		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	172					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGCATACAAGGACCGGTGCCA	0.627000														80			23		0	0	0.000279167	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488888	20488888	+	RNA	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:20488888G>A	uc001ytf.1	+	1		c.371G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		GACTGCTGGAGTTTAGGAGTT	0.433000														97			7		0	0	0.000274275	0	0
NXPH2	11249	broad.mit.edu	37	2	139429090	139429090	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:139429090G>A	uc002tvi.3	-	1	197	c.197C>T	c.(196-198)cCc>cTc	p.P66L		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	66	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCCGGGCTTGGGCACCGGAGA	0.552000														127			55		0	0	0.000781405	0	0
KCTD19	146212	broad.mit.edu	37	16	67327569	67327570	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:67327569_67327570GG>AA	uc002esu.2	-	11	2146_2147	c.2095_2096CC>TT	c.(2095-2097)cca>TTa	p.P699L	KCTD19_uc002est.2_Missense_Mutation_p.P471L|KCTD19_uc010vjj.1_Missense_Mutation_p.P442L	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	699						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CCCTGCCTGTGGTCCTGGATCC	0.619000														68			11		0	0	6.4e-05	0	0
BUD13	84811	broad.mit.edu	37	11	116633380	116633381	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:116633380_116633381GG>TT	uc001ppn.3	-	3	958_959	c.924_925CC>AA	c.(922-927)tcccat>tcAAat	p.H309N	BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Missense_Mutation_p.H309N	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	309										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		AATGACAAATGGGAGGCTCCTG	0.460000														394			12		0	0	6.4e-05	0	0
IDE	3416	broad.mit.edu	37	10	94223525	94223526	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:94223525_94223526CC>AA	uc001kia.3	-	20	2799_2800	c.2723_2724GG>TT	c.(2722-2724)tgg>tTT	p.W908F	IDE_uc010qnp.2_Missense_Mutation_p.W353F|IDE_uc001khz.3_Missense_Mutation_p.W353F	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	908					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGATTTCTCCCCAGTATTTAGC	0.401000														512			11		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9065230	9065230	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:9065230G>A	uc002mkp.3	-	2	22420	c.22216C>T	c.(22216-22218)Cct>Tct	p.P7406S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7408	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAAACAGGAGAAGGTGAG	0.527000														22			6		0	0	0.00116845	0	0
SYNE1	23345	broad.mit.edu	37	6	152644784	152644785	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:152644784_152644785GT>AA	uc021zhb.1	-	79	15968_15969	c.15745_15746AC>TT	c.(15745-15747)act>TTt	p.T5249F	SYNE1_uc003qot.4_Missense_Mutation_p.T5178F|SYNE1_uc003qou.4_Missense_Mutation_p.T5249F|SYNE1_uc010kiz.3_Missense_Mutation_p.T1004F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5249					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAAGAAGAGTTAAGAGCTCT	0.495000										HNSCC(10;0.0054)				32			28		0	0	6.4e-05	0	0
CRIM1	51232	broad.mit.edu	37	2	36706774	36706774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:36706774G>A	uc002rpd.3	+	6	1375	c.1309G>A	c.(1309-1311)Gtc>Atc	p.V437I		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	437	VWFC 2.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGTTGCGACCGTCTGCGGACA	0.577000														45			24		0	0	0.000227799	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360237	71360237	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:71360237A>G	uc002sht.2	+	1	651	c.299A>G	c.(298-300)aAt>aGt	p.N100S	MCEE_uc002shs.2_5'Flank|MPHOSPH10_uc010feb.1_Missense_Mutation_p.N100S	NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	100					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GAAACAATTAATGATGAAGAT	0.373000														43			12		0	0	0.000978159	0	0
COPS2	9318	broad.mit.edu	37	15	49426144	49426144	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:49426144G>A	uc001zxh.3	-	7	977	c.898C>T	c.(898-900)Cca>Tca	p.P300S	COPS2_uc001zxf.3_Missense_Mutation_p.P293S|COPS2_uc010ufa.2_Missense_Mutation_p.P229S	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	293	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		GAGTCAAATGGATTTATTCCC	0.313000														48			11		0	0	0.00010058	0	0
SKIV2L	6499	broad.mit.edu	37	6	31931314	31931314	+	Silent	SNP	C	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:31931314C>A	uc003nyn.1	+	13	1917	c.1528C>A	c.(1528-1530)Cga>Aga	p.R510R	SKIV2L_uc011dou.1_Silent_p.R352R|SKIV2L_uc011dov.1_Silent_p.R317R	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	510						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCTGGACTCCCGAGGAGCCTT	0.587000														358			8		0.000673444	0.00575262	0.000673444	1	0
GATA4	2626	broad.mit.edu	37	8	11607646	11607646	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:11607646C>T	uc011kxc.1	+	2	1270	c.813C>T	c.(811-813)tcC>tcT	p.S271S	GATA4_uc003wub.1_Silent_p.S64S|GATA4_uc003wuc.2_Silent_p.S270S	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	270					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.S270S(2)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TGGGCCTCTCCTGTGCCAACT	0.627000														28			21		0	0	0.00047179	0	0
LRPPRC	10128	broad.mit.edu	37	2	44190810	44190811	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:44190810_44190811CC>AA	uc002rtr.2	-	11	1462_1463	c.1404_1405GG>TT	c.(1402-1407)ttggga>ttTTga	p.468_469LG>F*	LRPPRC_uc010yob.1_Nonsense_Mutation_p.368_369LG>F*	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	468					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGATGTACTCCCAATTCTTGCA	0.366000														695			13		0	0	6.4e-05	0	0
NOX5	79400	broad.mit.edu	37	15	69335023	69335023	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:69335023C>T	uc002ars.2	+	9	1566	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.R463W|NOX5_uc002arp.2_Missense_Mutation_p.R491W|NOX5_uc010bid.2_Missense_Mutation_p.R474W|NOX5_uc010bie.2_Missense_Mutation_p.R309W|NOX5_uc002arr.2_Missense_Mutation_p.R481W|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	509	C-terminal catalytic region.|FAD-binding FR-type.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCTGCACATTCGGTCCCAAGG	0.567000														31			7		0	0	0.000157383	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518025	84518025	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:84518025G>A	uc010ffz.1	+	0	220	c.83G>A	c.(82-84)tGg>tAg	p.W28*						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		CAGCCGTGGTGGCGTAAGCTG	0.522000														20			20		0	0	0.000958276	0	0
TRIO	7204	broad.mit.edu	37	5	14482854	14482854	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:14482854C>T	uc003jff.3	+	45	6635	c.6629C>T	c.(6628-6630)cCg>cTg	p.P2210L	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.P1859L	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2210	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTCTCCATGCCGGGATTCCTG	0.488000														86			10		0	0	0.000442599	0	0
PKD2L1	9033	broad.mit.edu	37	10	102058345	102058345	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:102058345G>A	uc001kqx.1	-	3	1088	c.705C>T	c.(703-705)ctC>ctT	p.L235L	PKD2L1_uc009xwm.1_Silent_p.L188L	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	235					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GCCCAAAGGGGAGTTGTTCTT	0.527000														54			40		0	0	0.000437636	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462043	50462044	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:50462043_50462044CC>TT	uc010ybh.2	-	6	1310_1311	c.1219_1220GG>AA	c.(1219-1221)gga>AAa	p.G407K	SIGLEC11_uc010ybi.2_Missense_Mutation_p.G407K	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	407	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CACGGTCTGTCCCCACCGGGTC	0.683000														50			19		0	0	6.4e-05	0	0
DQ656008	0	broad.mit.edu	37	11	5142708	5142708	+	RNA	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5142708G>A	uc001maa.3	-	3		c.691C>T								Homo sapiens clone Affy08256A04, mRNA sequence.																		AGCACAGAATGGAATCCCAAT	0.423000														28			7		0	0	8.12818e-05	0	0
IKZF1	10320	broad.mit.edu	37	7	50459558	50459558	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:50459558C>T	uc003tow.4	+	6	1002	c.847C>T	c.(847-849)Ctt>Ttt	p.L283F	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Missense_Mutation_p.L58F|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Missense_Mutation_p.L196F|IKZF1_uc003tox.4_Missense_Mutation_p.L241F|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Missense_Mutation_p.L154F|IKZF1_uc022acx.1_Intron|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Missense_Mutation_p.L100F|IKZF1_uc011kck.2_Missense_Mutation_p.L196F|IKZF1_uc003toy.4_Missense_Mutation_p.L241F|IKZF1_uc003toz.4_Missense_Mutation_p.L253F|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	283					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCAGAAATTTCTTGGTAAGAG	0.408000			"""D,T"""	BCL6	"""ALL, DLBCL"""									16			4		0	0	0.00024832	0	0
ZNF534	147658	broad.mit.edu	37	19	52938438	52938438	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:52938438G>A	uc002pzk.3	+	2	353	c.286G>A	c.(286-288)Gag>Aag	p.E96K	ZNF534_uc002pzj.1_Missense_Mutation_p.E83K|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.E83K	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AGATGGCAGGGAGTGCATCAA	0.483000														31			6		0	0	0.000157383	0	0
RYR1	6261	broad.mit.edu	37	19	38994938	38994938	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:38994938G>A	uc002oit.3	+	49	8135	c.8005G>A	c.(8005-8007)Gag>Aag	p.E2669K	RYR1_uc002oiu.3_Missense_Mutation_p.E2669K|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2669	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTCACCTCAGAGGAGGAGCT	0.587000														38			4		0	0	8.12818e-05	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197517	32197517	+	Silent	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:32197517A>G	uc001ivz.1	-	2	537	c.267T>C	c.(265-267)aaT>aaC	p.N89N	ARHGAP12_uc001ivy.1_Silent_p.N87N|ARHGAP12_uc009xls.2_Silent_p.N87N|ARHGAP12_uc001iwb.1_Silent_p.N87N|ARHGAP12_uc001iwc.1_Silent_p.N87N|ARHGAP12_uc009xlq.1_Silent_p.N87N|ARHGAP12_uc009xlr.1_Silent_p.N87N	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	89					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TCGTGGAGTTATTTGGCAGAC	0.448000														40			16		0	0	0.000566183	0	0
DGCR2	9993	broad.mit.edu	37	22	19035969	19035969	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:19035969G>A	uc002zoq.1	-	6	1238	c.990C>T	c.(988-990)ttC>ttT	p.F330F	DGCR2_uc021wkx.1_Silent_p.F327F|DGCR2_uc021wky.1_Silent_p.F289F|DGCR2_uc021wkz.1_Silent_p.F106F|DGCR2_uc011agr.1_Silent_p.F286F|DGCR2_uc002zor.1_Silent_p.F106F|DGCR11_uc002zos.2_5'Flank	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	330	VWFC.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CCAGACACATGAACTTGCAGC	0.597000														113			40		0	0	0.000319135	0	0
USHBP1	83878	broad.mit.edu	37	19	17361183	17361183	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:17361183C>T	uc002nfs.1	-	12	2076	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	USHBP1_uc002nfr.1_Missense_Mutation_p.E281K|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.E591K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	655							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CGTTGCTCTTCCTGCTTCCGG	0.672000														46			10		0	0	0.000673444	0	0
NEB	4703	broad.mit.edu	37	2	152553955	152553955	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:152553955G>A	uc021vrb.1	-	12	1303	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	NEB_uc002txu.3_Missense_Mutation_p.S425F|NEB_uc021vrc.1_Missense_Mutation_p.S425F|NEB_uc010fnx.3_Missense_Mutation_p.S425F|NEB_uc021vrd.1_Missense_Mutation_p.S425F|NEB_uc010fny.2_5'UTR	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	425					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTAAGTAGGAATCTTTATA	0.333000														108			42		0	0	0.000319135	0	0
PAFAH2	5051	broad.mit.edu	37	1	26316033	26316033	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:26316033G>A	uc001bld.4	-	2	330	c.150C>T	c.(148-150)ccC>ccT	p.P50P	PAFAH2_uc001ble.4_Silent_p.P50P	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	50					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		GAATCCACAGGGGCTGCTCCA	0.582000														10			6		0	0	0.00116845	0	0
BTBD9	114781	broad.mit.edu	37	6	38160295	38160295	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:38160295C>T	uc003ooa.4	-	11	2217	c.1641_splice	c.e11+1	p.E547_splice	BTBD9_uc010jwv.3_Splice_Site_p.E517_splice|BTBD9_uc003ony.4_Splice_Site_p.E479_splice|BTBD9_uc010jww.3_Splice_Site|BTBD9_uc010jwx.3_Splice_Site_p.E547_splice	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	547					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AGACCCTTACCTCATTTGCTG	0.448000														31			28		0	0	0.000279167	0	0
IGF1	3479	broad.mit.edu	37	12	102813337	102813337	+	Missense_Mutation	SNP	C	T	T	rs151098426	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:102813337C>T	uc001tjp.4	-	2	571	c.352G>A	c.(352-354)Gct>Act	p.A118T	IGF1_uc001tjn.2_Missense_Mutation_p.A102T|IGF1_uc001tjm.2_Missense_Mutation_p.A118T|IGF1_uc001tjo.2_Missense_Mutation_p.A118T	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	118	D.				DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACAGAGCGAGCTGACTTGGCA	0.607000														42			9		0	0	0.000442599	0	0
SCUBE3	222663	broad.mit.edu	37	6	35211469	35211469	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:35211469G>A	uc003okf.1	+	15	2014	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	SCUBE3_uc003okg.1_Missense_Mutation_p.D669N|SCUBE3_uc003okh.1_Missense_Mutation_p.D557N	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	670					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCTCTCCTGCGACCTTTGCCC	0.622000														49			23		0	0	0.000878237	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560940	44560940	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:44560940C>T	uc002lcr.1	-	0	1049	c.696G>A	c.(694-696)caG>caA	p.Q232Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	232					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCGTTTTTCCTGGCGAGACG	0.612000														32			4		0	0	0.00024832	0	0
SFMBT1	51460	broad.mit.edu	37	3	52941212	52941212	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:52941212T>C	uc003dgf.3	-	19	2827	c.2204A>G	c.(2203-2205)aAg>aGg	p.K735R	SFMBT1_uc010hmr.3_Missense_Mutation_p.K682R|SFMBT1_uc003dgg.3_Missense_Mutation_p.K735R|SFMBT1_uc003dgh.3_Missense_Mutation_p.K735R	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	735					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GGAGCATGACTTTTTTTCTGA	0.468000														110			34		0	0	0.000953801	0	0
ZFAT	57623	broad.mit.edu	37	8	135577646	135577646	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:135577646G>A	uc003yup.3	-	10	3092	c.2906C>T	c.(2905-2907)aCg>aTg	p.T969M	ZFAT_uc011ljj.2_Missense_Mutation_p.T88M|ZFAT_uc003yun.3_Missense_Mutation_p.T957M|ZFAT_uc003yuo.3_Missense_Mutation_p.T957M|ZFAT_uc010meh.3_Missense_Mutation_p.T957M|ZFAT_uc010mej.3_Missense_Mutation_p.T907M|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.T957M	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	969					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCACACACCGTGCACTTAAA	0.567000														63			7		0	0	0.000157383	0	0
MYO15A	51168	broad.mit.edu	37	17	18023624	18023624	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:18023624C>T	uc021trm.1	+	0	1729	c.1510C>T	c.(1510-1512)Cct>Tct	p.P504S	MYO15A_uc021trl.1_Missense_Mutation_p.P504S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	504	Myosin head-like.				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)					TCTGGACATTCCTCTCCCCTT	0.647000														26			12		0	0	0.000151284	0	0
WDR49	151790	broad.mit.edu	37	3	167272581	167272581	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:167272581C>T	uc003fev.1	-	5	961	c.657G>A	c.(655-657)tgG>tgA	p.W219*	WDR49_uc003feu.1_Nonsense_Mutation_p.W44*|WDR49_uc011bpd.1_Nonsense_Mutation_p.W272*|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	219										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATTGAAGTCCCATATCTTTA	0.318000														61			9		0	0	0.000442599	0	0
CIITA	4261	broad.mit.edu	37	16	10997685	10997685	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:10997685C>T	uc002daj.4	+	8	1006	c.873C>T	c.(871-873)ttC>ttT	p.F291F	CIITA_uc002dai.4_Silent_p.F290F|CIITA_uc002dak.4_Silent_p.F241F|CIITA_uc002dag.2_Silent_p.F290F|CIITA_uc002dah.2_Silent_p.F242F|CIITA_uc010bup.1_Silent_p.F290F	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	290					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCAGCCCCTTCGCTCCATCAG	0.622000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									59			20		0	0	0.00121646	0	0
MMP26	56547	broad.mit.edu	37	11	5010886	5010886	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5010886C>T	uc001lzv.3	+	1	126	c.108C>T	c.(106-108)ttC>ttT	p.F36F		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	36					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGGGCTATTTCCATCAATTTT	0.468000														5			5		0	0	0.000602214	0	0
COL4A4	1286	broad.mit.edu	37	2	227922198	227922198	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:227922198C>T	uc021vxr.1	-	27	2603	c.2502G>A	c.(2500-2502)ggG>ggA	p.G834G	COL4A4_uc021vxs.1_Silent_p.G834G	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	834	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCCCTGGTATCCCTGGAGCAC	0.542000														13			8		0	0	0.000274275	0	0
SLC4A11	83959	broad.mit.edu	37	20	3210286	3210286	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:3210286G>A	uc010zqe.2	-	13	1880	c.1755C>T	c.(1753-1755)gcC>gcT	p.A585A	SLC4A11_uc002wig.3_Silent_p.A558A|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.A542A	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	558	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCGTGGGGCTGGCGAGGAAGC	0.647000														35			14		0	0	0.000219431	0	0
KRT25	147183	broad.mit.edu	37	17	38904547	38904547	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:38904547C>T	uc002hve.3	-	7	1396	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	445	Tail.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTTGAGATTTCTCTTCCAGGG	0.443000														120			16		0	0	0.000308642	0	0
KEL	3792	broad.mit.edu	37	7	142639971	142639971	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:142639971G>A	uc003wcb.3	-	16	2142	c.1932C>T	c.(1930-1932)atC>atT	p.I644I		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	644					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCTGCAGCGCGATGGCTAGCC	0.488000														64			17		0	0	0.00121646	0	0
KCNA4	3739	broad.mit.edu	37	11	30033394	30033394	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:30033394C>T	uc021qfi.1	-	0	832	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	KCNA4_uc001msk.3_Missense_Mutation_p.E278K	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	278						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCTTCCTCTTCTCTCACAAAG	0.502000														53			11		0	0	0.000978159	0	0
TEKT3	64518	broad.mit.edu	37	17	15234598	15234598	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:15234598G>A	uc002gon.3	-	2	492	c.305C>T	c.(304-306)tCc>tTc	p.S102F		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	102					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGTTAAATTGGACCTGTACCA	0.433000														93			26		0	0	0.00127121	0	0
OR4M2	390538	broad.mit.edu	37	15	22369022	22369022	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:22369022G>A	uc010tzu.2	+	0	545	c.447G>A	c.(445-447)tgG>tgA	p.W149*	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCTCTCCTGGAGGGGGGGCT	0.502000														147			10		0	0	0.000442599	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522594	96522594	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:96522594G>A	uc010qnz.2	+	0	132	c.132G>A	c.(130-132)caG>caA	p.Q44Q	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	44					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATATCCTACAGATAGATATTA	0.408000														36			24		0	0	0.00106085	0	0
GABRG2	2566	broad.mit.edu	37	5	161520913	161520913	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:161520913G>A	uc010jjc.3	+	1	545	c.187G>A	c.(187-189)Gag>Aag	p.E63K	GABRG2_uc003lyy.4_Missense_Mutation_p.E63K|GABRG2_uc003lyz.4_Missense_Mutation_p.E63K|GABRG2_uc011dej.2_5'UTR	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	63					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.E63K(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AAAAGTTCCTGAGGGTGATGT	0.388000														37			5		0	0	0.00116845	0	0
ANO3	63982	broad.mit.edu	37	11	26556094	26556094	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:26556094G>A	uc001mqt.4	+	8	1106	c.961G>A	c.(961-963)Gga>Aga	p.G321R	ANO3_uc010rdr.2_Missense_Mutation_p.G305R|ANO3_uc010rds.2_Missense_Mutation_p.G160R|ANO3_uc010rdt.2_Missense_Mutation_p.G175R	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	321						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATATGAAAATGGAATATCAAA	0.318000														71			20		0	0	0.00121646	0	0
PDE3A	5139	broad.mit.edu	37	12	20833091	20833091	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:20833091G>A	uc001reh.2	+	15	3352	c.3312G>A	c.(3310-3312)ctG>ctA	p.L1104L	PDE3A_uc021qwa.1_Silent_p.L782L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	1104					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATCAATCCCTGGACCAGACCC	0.473000														86			13		0	0	0.000151284	0	0
ADAM29	11086	broad.mit.edu	37	4	175898183	175898183	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:175898183G>A	uc003iuc.3	+	4	2177	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	ADAM29_uc003iud.3_Missense_Mutation_p.E503K|ADAM29_uc010irr.3_Missense_Mutation_p.E503K|ADAM29_uc011cki.2_Missense_Mutation_p.E503K|ADAM29_uc021xuo.1_Missense_Mutation_p.E503K	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	503	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.E503K(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGACCGCAATGAACAGTGTAG	0.458000														67			16		0	0	0.00121646	0	0
C5orf42	65250	broad.mit.edu	37	5	37183485	37183485	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:37183485A>T	uc011cpa.1	-	25	5029	c.4798T>A	c.(4798-4800)Tta>Ata	p.L1600I	C5orf42_uc011coy.1_Missense_Mutation_p.L101I|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.L675I|C5orf42_uc011cpb.1_Missense_Mutation_p.L481I	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1600										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGTCGTTTTAATGTTGTATGT	0.358000														34			13		0	0	0.00010058	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589962	140589962	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140589962G>A	uc003liz.3	+	0	1672	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	PCDHB12_uc011dak.2_Missense_Mutation_p.D158N	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	495	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGTCCCAGGACCCGCACCT	0.662000														73			12		0	0	0.00010058	0	0
IL36A	27179	broad.mit.edu	37	2	113765409	113765409	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:113765409G>A	uc010yxr.2	+	4	265	c.265_splice	c.e4-1	p.E89_splice		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	89					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CACCCTTCAGGAAAAGGATAT	0.463000														82			22		0	0	0.000375601	0	0
NRK	203447	broad.mit.edu	37	X	105137833	105137833	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:105137833G>A	uc004emd.3	+	5	690	c.387G>A	c.(385-387)atG>atA	p.M129I	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	129	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGATGGTGATGGAGTTATGTG	0.378000										HNSCC(51;0.14)				24			12		0	0	0.000308642	0	0
ABCB10	23456	broad.mit.edu	37	1	229678046	229678046	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:229678046A>G	uc001htp.4	-	3	1037	c.994T>C	c.(994-996)Tat>Cat	p.Y332H		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	332	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TATCGCCCATAAATTACAGCA	0.463000														12			19		0	0	0.000229342	0	0
CXorf22	170063	broad.mit.edu	37	X	35974299	35974299	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:35974299G>A	uc004ddj.3	+	7	1462	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	466										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CAAGATTACTGGAGGGGGTAT	0.363000														26			9		0	0	0.000442599	0	0
SLC18A1	6570	broad.mit.edu	37	8	20028641	20028641	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:20028641G>C	uc011kyq.2	-	8	1302	c.831C>G	c.(829-831)atC>atG	p.I277M	SLC18A1_uc003wzm.3_Missense_Mutation_p.I277M|SLC18A1_uc011kyr.2_Missense_Mutation_p.I277M|SLC18A1_uc003wzn.3_Missense_Mutation_p.I277M|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	277					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AAGGCTGTAGGATGCAAAGCT	0.493000														40			47		0	0	0.000781405	0	0
GPHN	10243	broad.mit.edu	37	14	67490378	67490378	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:67490378A>G	uc001xiy.3	+	8	2014	c.893A>G	c.(892-894)aAc>aGc	p.N298S	GPHN_uc001xiw.3_Missense_Mutation_p.N313S|GPHN_uc001xix.3_Missense_Mutation_p.N331S|GPHN_uc010tss.2_Missense_Mutation_p.N344S|GPHN_uc010tst.2_Missense_Mutation_p.N267S|GPHN_uc010tsu.2_Missense_Mutation_p.N221S	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	298	Interaction with GABARAP (By similarity).				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)		AGCAAGGAGAACATTCTCAGA	0.378000			T	MLL	AL									21			6		0	0	0.000157383	0	0
XIRP2	129446	broad.mit.edu	37	2	168100993	168100993	+	Missense_Mutation	SNP	G	A	A	rs143502096	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:168100993G>A	uc002udx.3	+	8	3180	c.3091G>A	c.(3091-3093)Gaa>Aaa	p.E1031K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E856K|XIRP2_uc010fpq.3_Missense_Mutation_p.E809K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	856					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAGTTTGATGAAAGCATTCA	0.368000														24			10		0	0	0.000673444	0	0
KLK1	3816	broad.mit.edu	37	19	51323615	51323615	+	Silent	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:51323615T>C	uc002ptk.1	-	2	330	c.291A>G	c.(289-291)ccA>ccG	p.P97P	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	97	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCAGGGTGTGGGAAGCTCT	0.567000														196			22		0	0	0.00047179	0	0
SEMG2	6407	broad.mit.edu	37	20	43851116	43851116	+	Silent	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:43851116G>C	uc010ggz.3	+	1	900	c.843G>C	c.(841-843)cgG>cgC	p.R281R	SEMG2_uc002xnk.3_Silent_p.R281R|SEMG2_uc002xnl.3_Silent_p.R281R	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	281	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AGCATGGCCGGAAGGCACATA	0.398000														38			15		0	0	0.000422831	0	0
RP1	6101	broad.mit.edu	37	8	55539794	55539794	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:55539794C>T	uc003xsd.1	+	3	3500	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1118					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTTCCCTTTCATTCTGCAAT	0.423000														30			32		0	0	0.000227799	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759016	121759016	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:121759016G>A	uc003ksw.1	+	3	790	c.584G>A	c.(583-585)gGa>gAa	p.G195E	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.G195E|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.G242E|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.G195E	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	195					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.T194A(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGCTCTACAGGAAGTTCTGAG	0.463000														55			22		0	0	0.000375601	0	0
C10orf71	118461	broad.mit.edu	37	10	50531539	50531539	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:50531539C>T	uc021pqb.1	+	0	949	c.949C>T	c.(949-951)Cct>Tct	p.P317S	C10orf71_uc021pqa.1_Missense_Mutation_p.P316S|C10orf71_uc021pqc.1_Missense_Mutation_p.P317S	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	317										endometrium(1)	1						AGAACCCTGTCCTCCTGAGCG	0.577000														32			12		0	0	0.000219431	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802432	185802432	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:185802432G>A	uc002uph.3	+	3	2903	c.2309G>A	c.(2308-2310)cGa>cAa	p.R770Q		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	770						intracellular	zinc ion binding	p.R770Q(4)|p.R770*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGATTCTATCGAAAACGTAGA	0.333000														77			22		0	0	0.000295444	0	0
LRRC7	57554	broad.mit.edu	37	1	70446077	70446077	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:70446077C>T	uc001dep.3	+	6	643	c.613C>T	c.(613-615)Caa>Taa	p.Q205*	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	205						centrosome|focal adhesion|nucleolus	protein binding	p.Q205K(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTTCTGGATCAAATACAAAA	0.328000														147			26		0	0	0.000339439	0	0
C15orf2	23742	broad.mit.edu	37	15	24922598	24922598	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:24922598C>T	uc001ywo.3	+	0	2058	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	528	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTCCTCTTTCCTTCCTGACTC	0.532000														115			34		0	0	0.000692331	0	0
DSP	1832	broad.mit.edu	37	6	7583627	7583627	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:7583627C>T	uc003mxp.1	+	23	6411	c.6132C>T	c.(6130-6132)tcC>tcT	p.S2044S	DSP_uc003mxq.1_Silent_p.S1445S|DSP_uc021yle.1_Silent_p.S1601S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2044	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCCAGAATCCACAGTCATGC	0.502000														74			42		0	0	0.000437636	0	0
GNAS	2778	broad.mit.edu	37	20	57429122	57429122	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:57429122C>T	uc002xzw.3	+	0	1087	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCCTCACTCCCGCCGCGAA	0.692000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				14			5		0	0	0.000602214	0	0
MLL	4297	broad.mit.edu	37	11	118343920	118343920	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:118343920C>T	uc001pta.3	+	2	2069	c.2046C>T	c.(2044-2046)ctC>ctT	p.L682L	MLL_uc001ptb.3_Silent_p.L682L|MLL_uc001psz.1_Silent_p.L715L|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	682					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTTCGCCACTCCATTCTGGAA	0.473000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									21			24		0	0	0.000375601	0	0
USP33	23032	broad.mit.edu	37	1	78207390	78207390	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:78207390G>A	uc001dht.3	-	2	433	c.86C>T	c.(85-87)cCt>cTt	p.P29L	USP33_uc001dhu.3_5'UTR|USP33_uc001dhv.3_5'Flank|USP33_uc001dhw.3_Missense_Mutation_p.P29L	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	29					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATTTTGTTAGGAATTTTTTC	0.318000														39			7		0	0	0.000157383	0	0
PKD1L2	114780	broad.mit.edu	37	16	81253869	81253869	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:81253869C>T	uc002fgh.1	-	0	107	c.107G>A	c.(106-108)aGa>aAa	p.R36K	PKD1L2_uc002fgj.3_Missense_Mutation_p.R36K	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	36	C-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCAAGCATCTCTGAAGGCCAC	0.562000														56			21		0	0	0.000175454	0	0
OTOA	146183	broad.mit.edu	37	16	21698898	21698898	+	Silent	SNP	A	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:21698898A>T	uc002djh.3	+	6	565	c.564A>T	c.(562-564)tcA>tcT	p.S188S	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.S109S	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	188					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GGGGGTCCTCAGGGAGCTTTC	0.552000														39			14		0	0	0.000308642	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300637	103300637	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:103300637C>T	uc002tca.3	+	4	1409	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	423						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCGGACCATTCCCCTGACCTT	0.463000														53			25		0	0	0.00127121	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798785	55798785	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:55798785G>A	uc010riw.2	+	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ACAAGGATGTGAAAAATGCTC	0.313000														50			25		0	0	0.000375601	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708093	29708093	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:29708093C>T	uc003afa.1	+	6	1849	c.1650C>T	c.(1648-1650)ccC>ccT	p.P550P	GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Silent_p.P550P|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	551					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CTCGGGCCCCCGACCCTCCAG	0.657000														109			64		0	0	0.000781405	0	0
CPA2	1358	broad.mit.edu	37	7	129909563	129909563	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:129909563C>T	uc003vpq.3	+	2	227	c.208C>T	c.(208-210)Ccc>Tcc	p.P70S	CPA2_uc011kpc.1_Missense_Mutation_p.P70S	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	70					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CGTCCGAGTTCCCTTCGTCAA	0.498000														45			23		0	0	0.000586117	0	0
OR8K3	219473	broad.mit.edu	37	11	56085890	56085890	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:56085890G>A	uc010rjf.2	+	0	108	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGATCTATGTGATCTCAGTGA	0.433000														65			45		0	0	0.000589545	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	C	C	rs28392876	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:16946438G>C	uc010ocf.2	-	2		c.460C>G			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000														16			4		0	0	0.00024832	0	0
ZPLD1	131368	broad.mit.edu	37	3	102171806	102171806	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:102171806G>A	uc003dvt.1	+	2	298	c.198G>A	c.(196-198)acG>acA	p.T66T	ZPLD1_uc003dvs.1_Silent_p.T50T|ZPLD1_uc011bhg.1_Silent_p.T50T	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	50	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AGGCTATTACGATGAAGATTA	0.383000														46			17		0	0	0.000958276	0	0
FER1L5	90342	broad.mit.edu	37	2	97364781	97364781	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:97364781G>A	uc010fia.3	+	41	4600	c.4600_splice	c.e41-1	p.C1534_splice	FER1L5_uc002sws.4_Splice_Site_p.C252_splice|FER1L5_uc010fib.1_Splice_Site|FER1L5_uc010yus.2_Splice_Site_p.C251_splice	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1534	C2 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TCTGACCCCAGTGTGACCCTT	0.572000														10			4		0	0	0.00024832	0	0
BICD2	23299	broad.mit.edu	37	9	95481034	95481034	+	Silent	SNP	G	A	A	rs141414055	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:95481034G>A	uc004asp.1	-	4	1950	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	BICD2_uc004aso.1_Silent_p.I631I	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	631					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGATGATAGCGATCAGGTTGT	0.657000														59			27		0	0	0.000586117	0	0
LOC440518	440518	broad.mit.edu	37	19	22780198	22780198	+	RNA	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:22780198G>A	uc002nqu.4	+	1		c.276G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		CACTCACCTGGAGATGTGAGT	0.517000														34			8		0	0	0.000442599	0	0
OR5M11	219487	broad.mit.edu	37	11	56310479	56310479	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:56310479G>A	uc010rjl.2	-	0	255	c.255C>T	c.(253-255)atC>atT	p.I85I	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TCTCAGATACGATATTAGTCG	0.448000														35			19		0	0	0.000175454	0	0
C19orf45	374877	broad.mit.edu	37	19	7570468	7570468	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:7570468G>C	uc002mgm.2	+	5	1102	c.961G>C	c.(961-963)Ggc>Cgc	p.G321R	C19orf45_uc010xjo.1_5'UTR	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	321										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						TTGGTGCCCCGGCCCCGGCAG	0.577000														36			7		0	0	0.000157383	0	0
LOC654342	654342	broad.mit.edu	37	2	91843513	91843513	+	RNA	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:91843513G>A	uc002sts.4	-	1		c.57C>T			LOC654342_uc010yub.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC654342), non-coding RNA.																		GCTAGCTTGGGGGTCTGGCCA	0.597000														52			5		0	0	0.00116845	0	0
UBR1	197131	broad.mit.edu	37	15	43317039	43317039	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:43317039C>T	uc001zqq.3	-	24	2793	c.2727G>A	c.(2725-2727)ggG>ggA	p.G909G	UBR1_uc010udk.1_Silent_p.G909G	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	909					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTTGGAGCATCCCTTCGGTCC	0.423000														115			38		0	0	0.000270559	0	0
ENTPD3	956	broad.mit.edu	37	3	40457369	40457369	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:40457369G>A	uc003ckd.4	+	6	728	c.636G>A	c.(634-636)gtG>gtA	p.V212V	ENTPD3_uc010hhy.3_Silent_p.V212V|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	212						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CGCATGGAGTGGAAACCACGG	0.542000														38			8		0	0	0.000157383	0	0
ATF6B	1388	broad.mit.edu	37	6	32083662	32083662	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:32083662G>A	uc003nzn.3	-	17	1999	c.1966C>T	c.(1966-1968)Cac>Tac	p.H656Y	TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Missense_Mutation_p.H653Y	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	656					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GTCTTGATGTGAATCACCCTG	0.617000														422			87		0	0	0.000781405	0	0
SLC46A3	283537	broad.mit.edu	37	13	29284912	29284912	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:29284912G>A	uc001usj.3	-	3	1671	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	SLC46A3_uc001usg.3_Missense_Mutation_p.R302C|SLC46A3_uc001usi.3_Missense_Mutation_p.R377C|SLC46A3_uc001ush.3_Missense_Mutation_p.R377C|SLC46A3_uc001usk.3_3'UTR	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	377					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TCAGTCGAACGAACCACTTTT	0.388000														116			25		0	0	0.00106085	0	0
SCEL	8796	broad.mit.edu	37	13	78177246	78177246	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:78177246C>T	uc001vki.3	+	17	1243	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	SCEL_uc010thx.2_Missense_Mutation_p.P336L|SCEL_uc001vkj.3_Missense_Mutation_p.P338L	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	358	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		GAAGTAAATCCCAAAGGACAT	0.279000														46			13		0	0	0.000422831	0	0
SLC44A1	23446	broad.mit.edu	37	9	108097938	108097938	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:108097938C>T	uc004bcn.3	+	3	585	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	122						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AAGGCAAGAACTGAAAACTCT	0.403000														70			22		0	0	0.00047179	0	0
UGT2B28	54490	broad.mit.edu	37	4	70160312	70160312	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:70160312C>T	uc003hej.3	+	5	1377	c.1375C>T	c.(1375-1377)Cga>Tga	p.R459*	UGT2B28_uc010ihr.3_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	459					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GCCCCTGCATCGAGCAGTCTT	0.408000														19			5		0	0	0.00116845	0	0
PSG7	5676	broad.mit.edu	37	19	43433850	43433850	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:43433850G>A	uc002ovl.4	-	3	552	c.450C>T	c.(448-450)atC>atT	p.I150I	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.I29I	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	151	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				TGCTGCTGGAGATGGAGGGTT	0.517000														99			58		0	0	0.000781405	0	0
ZFAND6	54469	broad.mit.edu	37	15	80414107	80414107	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:80414107A>G	uc002bfe.2	+	3	630	c.208A>G	c.(208-210)Agt>Ggt	p.S70G	ZFAND6_uc021srv.1_Missense_Mutation_p.S70G|ZFAND6_uc021srw.1_Missense_Mutation_p.S70G|ZFAND6_uc002bfg.2_Missense_Mutation_p.S58G|ZFAND6_uc002bff.2_Missense_Mutation_p.S70G|ZFAND6_uc021srx.1_Missense_Mutation_p.S70G|ZFAND6_uc021sry.1_Missense_Mutation_p.S70G|ZFAND6_uc002bfh.2_Missense_Mutation_p.S70G|ZFAND6_uc002bfi.2_Missense_Mutation_p.S70G	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN	Homo sapiens zinc finger, AN1-type domain 6 (ZFAND6), transcript variant 1, mRNA.	70	Ser-rich.						DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CACAGATGGCAGTGTGCCAGA	0.418000														35			5		0	0	0.000602214	0	0
ERC2	26059	broad.mit.edu	37	3	56330089	56330089	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:56330089C>T	uc021wzo.1	-	1	1172	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	ERC2_uc003dhr.1_Silent_p.V344V	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	344						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GATCTAAAATCACTTCCAAGT	0.428000														84			32		0	0	0.000227799	0	0
TEP1	7011	broad.mit.edu	37	14	20854292	20854292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:20854292G>A	uc001vxe.3	-	19	2964	c.2924C>T	c.(2923-2925)tCc>tTc	p.S975F	TEP1_uc010ahk.3_Missense_Mutation_p.S325F|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S867F	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	975					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCATAACGGGAGCCCAGAAT	0.557000														51			27		0	0	0.00127121	0	0
CAMKK1	84254	broad.mit.edu	37	17	3788911	3788912	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:3788911_3788912TC>AA	uc002fwv.3	-	1	218_219	c.70_71GA>TT	c.(70-72)gat>TTt	p.D24F	CAMKK1_uc002fwt.3_Missense_Mutation_p.D24F|CAMKK1_uc002fwu.3_Missense_Mutation_p.D24F	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	24					synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTGAGTCACATCGATGGCTGCC	0.619000														40			7		0	0	6.4e-05	0	0
PKD1L2	114780	broad.mit.edu	37	16	81211505	81211505	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:81211505G>A	uc002fgh.1	-	13	2344	c.2344C>T	c.(2344-2346)Cca>Tca	p.P782S	PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_Missense_Mutation_p.P97S|PKD1L2_uc002fgj.3_Missense_Mutation_p.P782S|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	782	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCTCCTCTGGGGCAATAGTG	0.592000														52			8		0	0	0.000157383	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517829	158517829	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:158517829G>A	uc010pil.2	-	0	67	c.67C>T	c.(67-69)Cca>Tca	p.P23S		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGTCGTGTTGGAAACCCCAGA	0.448000														21			22		0	0	0.000375601	0	0
MUC17	140453	broad.mit.edu	37	7	100677404	100677404	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:100677404C>A	uc003uxp.1	+	2	2760	c.2707C>A	c.(2707-2709)Cgt>Agt	p.R903S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	903	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACTGAAGCCCGTTCGTCTCC	0.527000														291			8		0.000442599	0.0037935	0.000442599	1	0
PLXDC2	84898	broad.mit.edu	37	10	20335888	20335888	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:20335888G>A	uc001iqg.1	+	2	1052	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	PLXDC2_uc001iqh.1_Intron	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	139						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGACCAAATGGAAAAAGATAA	0.383000														69			5		0	0	0.000602214	0	0
OR2F2	135948	broad.mit.edu	37	7	143633249	143633249	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:143633249C>T	uc011ktv.2	+	0	924	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TAGAGAAATTCTCTGGGTTAA	0.423000														27			12		0	0	0.000219431	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350500	89350500	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:89350500T>G	uc002fmx.1	-	8	2911	c.2450A>C	c.(2449-2451)tAt>tCt	p.Y817S	ANKRD11_uc002fmy.1_Missense_Mutation_p.Y817S|ANKRD11_uc002fnc.1_Missense_Mutation_p.Y817S|ANKRD11_uc002fnb.1_Missense_Mutation_p.Y774S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	817	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTTGTTACAATATTCGTCAAA	0.343000														30			4		0	0	0.00024832	0	0
LAMB2	3913	broad.mit.edu	37	3	49167662	49167662	+	Splice_Site	SNP	A	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:49167662A>C	uc003cwe.3	-	9	1524	c.1225_splice	c.e9+1	p.S409_splice	LAMB2_uc003cwf.1_Splice_Site_p.S409_splice	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	409	Laminin EGF-like 2.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCCAGCCTCACAGCGGCACA	0.592000														22			10		0	0	0.000442599	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640444	99640444	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:99640444G>A	uc001tge.2	-	12	2372	c.1955C>T	c.(1954-1956)cCa>cTa	p.P652L	ANKS1B_uc001tgf.2_Missense_Mutation_p.P232L|ANKS1B_uc001tgk.3_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.P618L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	652						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ATTTTCTATTGGAGACTGCTT	0.363000														51			10		0	0	0.000442599	0	0
TFDP1	7027	broad.mit.edu	37	13	114287495	114287495	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:114287495C>T	uc001vtw.3	+	5	581	c.369C>T	c.(367-369)gtC>gtT	p.V123V	TFDP1_uc010tkd.2_Silent_p.V28V|TFDP1_uc010tke.2_Silent_p.V28V|TFDP1_uc001vty.4_Silent_p.V123V|TFDP1_uc010agx.3_Silent_p.V123V	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	123					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CCATGAAGGTCTGCGAGAAGG	0.517000										TSP Lung(29;0.18)				27			9		0	0	0.000442599	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737564	62737564	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:62737564G>A	uc011abt.2	-	0	621	c.621C>T	c.(619-621)gtC>gtT	p.V207V		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	207						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCTTGAACCAGACCTGCTCGG	0.627000														40			7		0	0	0.000157383	0	0
ZMAT1	84460	broad.mit.edu	37	X	101138613	101138613	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:101138613G>A	uc011mrl.2	-	6	2136	c.1786C>T	c.(1786-1788)Cga>Tga	p.R596*	ZMAT1_uc004eim.3_Nonsense_Mutation_p.R425*|ZMAT1_uc004ein.3_Nonsense_Mutation_p.R425*|ZMAT1_uc011mrm.2_Nonsense_Mutation_p.R425*	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	425						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTTTTTTCGATGCTTAAGC	0.378000														28			12		0	0	0.000422831	0	0
CYLC2	1539	broad.mit.edu	37	9	105767653	105767653	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:105767653G>A	uc004bbs.2	+	4	810	c.740G>A	c.(739-741)gGa>gAa	p.G247E		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	247	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GATGAGGATGGAAAAAAAGAT	0.363000														41			16		0	0	0.000566183	0	0
COL6A6	131873	broad.mit.edu	37	3	130284092	130284092	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:130284092G>A	uc010htl.3	+	2	947	c.916G>A	c.(916-918)Gcc>Acc	p.A306T		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	306	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen		p.A306D(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AACTGGGAAGGCCTATACTGG	0.478000														59			20		0	0	0.000295444	0	0
CPA6	57094	broad.mit.edu	37	8	68430177	68430177	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:68430177C>T	uc003xxq.4	-	2	554	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	CPA6_uc003xxr.4_Intron|CPA6_uc003xxs.2_Missense_Mutation_p.E100K	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	100					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATGTTGGCTTCCTGTAAGAAG	0.413000														72			12		0	0	0.000151284	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910184	101910184	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:101910184G>A	uc010nod.3	+	2	1985	c.1343G>A	c.(1342-1344)gGg>gAg	p.G448E	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.G448E|GPRASP1_uc004ejj.4_Missense_Mutation_p.G448E|GPRASP1_uc004eji.4_Missense_Mutation_p.G448E|GPRASP1_uc022cbd.1_Missense_Mutation_p.G448E	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	448						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCAGTATGGGGACTGGGGCT	0.502000														111			30		0	0	0.000279167	0	0
MUC16	94025	broad.mit.edu	37	19	9060338	9060338	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:9060338C>T	uc002mkp.3	-	2	27312	c.27108G>A	c.(27106-27108)atG>atA	p.M9036I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9038	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACTTGTGTCATGGAGTCCT	0.532000														46			7		0	0	8.12818e-05	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	T	T	rs145638725		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:158261127C>T	uc001fru.3	+	1	557	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	89					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000														61			35		0	0	0.000953801	0	0
UTP14A	10813	broad.mit.edu	37	X	129060059	129060060	+	Silent	DNP	CC	TT	TT			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:129060059_129060060CC>TT	uc004euz.3	+	12	2004_2005	c.1914_1915CC>TT	c.(1912-1917)ggccta>ggTTta	p.638_639GL>GL	UTP14A_uc011mup.2_Silent_p.586_587GL>GL|UTP14A_uc011muq.2_Silent_p.584_585GL>GL	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	638					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GTGGTGTGGGCCTAAAGCCCAG	0.574000											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			13		0	0	6.4e-05	0	0
BAG6	7917	broad.mit.edu	37	6	31609699	31609699	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:31609699G>A	uc003nvg.4	-	15	2583	c.2269C>T	c.(2269-2271)Ctt>Ttt	p.L757F	BAG6_uc003nvf.4_Missense_Mutation_p.L751F|BAG6_uc003nvi.4_Missense_Mutation_p.L751F|BAG6_uc003nvh.4_Missense_Mutation_p.L751F|BAG6_uc011dnw.2_Missense_Mutation_p.L751F|BAG6_uc011dnx.2_Missense_Mutation_p.L625F	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	757					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TGGCACAGAAGAGAAAGCAAG	0.542000														230			55		0	0	0.000781405	0	0
COIL	8161	broad.mit.edu	37	17	55027336	55027336	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:55027336C>T	uc002iuu.3	-	1	1298	c.1267G>A	c.(1267-1269)Gtt>Att	p.V423I		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	423	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ACACAGGAAACAGGATGCCCT	0.443000														55			16		0	0	0.000958276	0	0
PHKA1	5255	broad.mit.edu	37	X	71813013	71813013	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:71813013C>T	uc004eax.4	-	28	3485	c.3184G>A	c.(3184-3186)Ggg>Agg	p.G1062R	PHKA1_uc004eay.4_Missense_Mutation_p.G1049R|PHKA1_uc011mqi.2_Missense_Mutation_p.G990R|PHKA1_uc010nll.3_Missense_Mutation_p.G94R	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	1062	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTCAGTGCCCCATCCAGCCTT	0.433000														54			17		0	0	0.000566183	0	0
SERPINB2	5055	broad.mit.edu	37	18	61600313	61600313	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:61600313T>G	uc010xev.2	+	6	755	c.665T>G	c.(664-666)aTg>aGg	p.M222R	SERPINB2_uc010xew.2_Missense_Mutation_p.M222R	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	237					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGATGTTTATGAAGAAAAAG	0.368000														67			6		0	0	0.00116845	0	0
IQCE	23288	broad.mit.edu	37	7	2623876	2623876	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:2623876C>T	uc003sml.1	+	10	965	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	IQCE_uc010ksm.1_Missense_Mutation_p.R261C|IQCE_uc011jvy.1_Missense_Mutation_p.R245C|IQCE_uc011jvz.1_Missense_Mutation_p.R196C|IQCE_uc003smo.4_Missense_Mutation_p.R261C|IQCE_uc003smk.4_Missense_Mutation_p.R245C|IQCE_uc003smn.4_Missense_Mutation_p.R196C	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	261										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		ACAGGTGCATCGTCTCCAGAC	0.473000														117			39		0	0	0.000374591	0	0
NDST4	64579	broad.mit.edu	37	4	115769380	115769380	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:115769380C>T	uc003ibu.3	-	8	2610	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	644	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCAGTCTATTCCTTTGTGATA	0.333000														34			12		0	0	0.00010058	0	0
MCTP2	55784	broad.mit.edu	37	15	94841934	94841934	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:94841934G>A	uc002btj.3	+	0	505	c.440G>A	c.(439-441)gGa>gAa	p.G147E	MCTP2_uc010urg.1_Missense_Mutation_p.G147E|MCTP2_uc002bti.2_Missense_Mutation_p.G147E|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.G147E|MCTP2_uc002btg.4_Missense_Mutation_p.G147E|MCTP2_uc002bth.4_Missense_Mutation_p.G147E	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	147					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ACTTCCCTTGGAGGGGATGCA	0.527000														65			18		0	0	0.000958276	0	0
CD14	929	broad.mit.edu	37	5	140011580	140011580	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:140011580G>A	uc003lgi.2	-	1	1368	c.989C>T	c.(988-990)cCc>cTc	p.P330L	CD14_uc003lgj.2_Missense_Mutation_p.P330L|CD14_uc021yej.1_Missense_Mutation_p.P330L|CD14_uc021yek.1_Missense_Mutation_p.P330L|CD14_uc021yel.1_Missense_Mutation_p.P199L	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	330					Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCAGGAAGGGATTCCCGTC	0.642000														18			5		0	0	0.000602214	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443520	5443520	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5443520C>T	uc010qzd.2	+	0	180	c.90C>T	c.(88-90)tcC>tcT	p.S30S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGGATCTCCATCCCCGTCT	0.517000														112			31		0	0	0.000227799	0	0
HGF	3082	broad.mit.edu	37	7	81381528	81381528	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:81381528C>T	uc003uhl.3	-	4	698	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	HGF_uc003uhm.3_Missense_Mutation_p.R173Q|HGF_uc003uhn.1_Missense_Mutation_p.R178Q|HGF_uc003uho.1_Missense_Mutation_p.R173Q|HGF_uc003uhp.3_Missense_Mutation_p.R178Q	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	178	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCGAGGATTTCGACAGTAGTT	0.418000														35			7		0	0	0.000157383	0	0
OR5L1	219437	broad.mit.edu	37	11	55579695	55579695	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:55579695C>T	uc001nhw.1	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCACTGTCTTCCATGGAACAG	0.517000														48			20		0	0	0.000295444	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577010	67577010	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:67577010C>G	uc003xwn.3	-	0	2443	c.2184G>C	c.(2182-2184)caG>caC	p.Q728H	SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	728					protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTTTCCGTTTCTGCATTACAG	0.413000														84			12		0	0	0.000978159	0	0
C20orf11	54994	broad.mit.edu	37	20	61574343	61574343	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:61574343C>T	uc002ydy.3	+	2	300	c.123C>T	c.(121-123)ggC>ggT	p.G41G		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	Homo sapiens chromosome 20 open reading frame 11 (C20orf11), mRNA.	41	LisH.					nucleus	protein binding			endometrium(1)|kidney(1)|lung(3)|skin(1)|urinary_tract(1)	7	Breast(26;5.68e-08)					ATTCAGAGGGCTTTAAGGAAG	0.408000														52			19		0	0	0.00121646	0	0
CACNA1B	774	broad.mit.edu	37	9	140952615	140952615	+	Silent	SNP	C	T	T	rs35538393		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:140952615C>T	uc004cog.3	+	27	4366	c.4221C>T	c.(4219-4221)ttC>ttT	p.F1407F	CACNA1B_uc022bqn.1_Silent_p.F1407F|CACNA1B_uc011mfd.2_Silent_p.F1008F|CACNA1B_uc004coi.3_Silent_p.F621F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1407					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCTTCTTCTTCGTCAACATCT	0.537000														106			29		0	0	0.000227799	0	0
SLC4A8	9498	broad.mit.edu	37	12	51864226	51864226	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:51864226C>T	uc001rys.1	+	12	1753	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	SLC4A8_uc010sni.2_Silent_p.S472S|SLC4A8_uc001rym.3_Silent_p.S472S|SLC4A8_uc001ryn.3_Silent_p.S472S|SLC4A8_uc001ryo.2_Silent_p.S472S|SLC4A8_uc010snj.2_Silent_p.S552S|SLC4A8_uc001ryq.4_Silent_p.S525S|SLC4A8_uc001ryr.3_Silent_p.S525S|SLC4A8_uc010snk.2_Silent_p.S472S	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	525					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TTGCTTATTCCTTGTTTGCGG	0.423000														49			17		0	0	0.000566183	0	0
LYST	1130	broad.mit.edu	37	1	235907411	235907411	+	Silent	SNP	T	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:235907411T>G	uc001hxj.2	-	29	8194	c.8019A>C	c.(8017-8019)gtA>gtC	p.V2673V	LYST_uc009xga.1_Silent_p.V309V	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2673					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCTTTGAGTTACATTTTCTG	0.299000														138			17		0	0	0.00121646	0	0
MYLK2	85366	broad.mit.edu	37	20	30408279	30408279	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:30408279G>A	uc002wwq.2	+	2	505	c.403G>A	c.(403-405)Ggc>Agc	p.G135S		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	135					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGCAGCAGAGGGCCAAGCAGC	0.632000														44			11		0	0	0.000978159	0	0
AMPD3	272	broad.mit.edu	37	11	10516495	10516495	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:10516495C>T	uc001min.1	+	7	1556	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L	AMPD3_uc010rbz.1_Missense_Mutation_p.P236L|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.P395L|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.P402L|AMPD3_uc009yfy.2_Missense_Mutation_p.P395L	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	395					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AAATACAACCCTGTGGGGGCC	0.532000														112			44		0	0	0.000680045	0	0
SERPINI1	5274	broad.mit.edu	37	3	167525035	167525035	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:167525035C>T	uc003ffa.4	+	5	1083	c.885C>T	c.(883-885)ttC>ttT	p.F295F	SERPINI1_uc003ffb.4_Silent_p.F295F	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	295					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TCTCCAGGTTCACAGTGGAAC	0.348000														51			16		0	0	0.000422831	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100147811	100147811	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:100147811G>A	uc003knk.3	-	4	1148	c.820C>T	c.(820-822)Cct>Tct	p.P274S		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	274					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CTTTTGATAGGAACTTTGTTG	0.378000														39			20		0	0	0.00047179	0	0
SLC12A7	10723	broad.mit.edu	37	5	1079556	1079556	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr5:1079556G>A	uc003jbu.3	-	9	1419	c.1353C>T	c.(1351-1353)atC>atT	p.I451I		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	451					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCCCGTGGGGATGGACTTCT	0.587000														76			22		0	0	0.00127121	0	0
NOL6	65083	broad.mit.edu	37	9	33463377	33463377	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr9:33463377G>A	uc003zsz.3	-	23	3158	c.3057C>T	c.(3055-3057)atC>atT	p.I1019I	NOL6_uc003zsy.3_Silent_p.I73I|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Silent_p.I1016I|NOL6_uc011lob.2_Silent_p.I967I|NOL6_uc003ztb.1_Intron	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	1019					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTGCCGCGGGATATGGCGAG	0.662000														18			10		0	0	0.000978159	0	0
S1PR1	1901	broad.mit.edu	37	1	101705320	101705320	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:101705320C>T	uc021oqt.1	+	0	780	c.780C>T	c.(778-780)atC>atT	p.I260I	S1PR1_uc001dud.2_Silent_p.I260I|S1PR1_uc009weg.2_Silent_p.I260I	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	260					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.I260I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CCGTAATTATCGTCCTGAGCG	0.597000														74			30		0	0	0.00106085	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142557655	142557655	+	Missense_Mutation	SNP	C	T	T	rs139818603		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:142557655C>T	uc003evd.3	-	4	974	c.667G>A	c.(667-669)Gat>Aat	p.D223N		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	223	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.D223N(2)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTTCTAGCATCGTTGACTTCC	0.373000														41			11		0	0	0.000978159	0	0
PLCB4	5332	broad.mit.edu	37	20	9391708	9391708	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:9391708G>A	uc021wam.1	+	20	2003	c.1988G>A	c.(1987-1989)gGa>gAa	p.G663E	PLCB4_uc010gbw.1_Missense_Mutation_p.G663E|PLCB4_uc010gbx.3_Missense_Mutation_p.G675E|PLCB4_uc021wal.1_Missense_Mutation_p.G663E|PLCB4_uc002wnh.3_Missense_Mutation_p.G510E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	663	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGAATCAGGGAAAATTTGAG	0.368000														45			12		0	0	0.000219431	0	0
SDC1	6382	broad.mit.edu	37	2	20403831	20403831	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:20403831G>A	uc002rdo.1	-	2	669	c.370C>T	c.(370-372)Cga>Tga	p.R124*	SDC1_uc002rdp.1_Nonsense_Mutation_p.R124*|SDC1_uc010exv.3_Nonsense_Mutation_p.R124*|SDC1_uc010exw.1_Non-coding_Transcript	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	124					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	p.R124*(2)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TCCCTGGGTCGGGGGGTGGCC	0.701000														55			27		0	0	0.000409698	0	0
KLRC1	3821	broad.mit.edu	37	12	10603144	10603144	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:10603144C>T	uc001qyl.3	-	2	436	c.222G>A	c.(220-222)ggG>ggA	p.G74G	KLRC1_uc009zhm.2_Silent_p.G74G|KLRC1_uc001qym.3_Silent_p.G74G|KLRC1_uc001qyn.3_Silent_p.G74G|KLRC1_uc001qyo.3_Silent_p.G74G	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	74					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						TTCCCAGGATCCCAACAATGA	0.428000														81			32		0	0	0.000692331	0	0
TEC	7006	broad.mit.edu	37	4	48178188	48178188	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:48178188C>T	uc003gxz.3	-	2	245	c.154G>A	c.(154-156)Ggg>Agg	p.G52R		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	52	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TCAATAAACCCCTTTCTGTAT	0.308000														62			24		0	0	0.000586117	0	0
CAMK2D	817	broad.mit.edu	37	4	114378553	114378553	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:114378553G>A	uc003ibi.3	-	16	2230	c.1371C>T	c.(1369-1371)cgC>cgT	p.R457R	CAMK2D_uc003ibj.3_Silent_p.R457R|CAMK2D_uc003ibk.3_Silent_p.R457R|CAMK2D_uc003ibo.4_Silent_p.R491R|CAMK2D_uc003ibm.2_Silent_p.R471R|CAMK2D_uc003ibn.2_Silent_p.R468R|CAMK2D_uc003ibl.2_Silent_p.R457R	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	457					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TTCCATCCCGGCGGTGCCACA	0.473000														38			12		0	0	0.000219431	0	0
WFS1	7466	broad.mit.edu	37	4	6302805	6302805	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:6302805C>T	uc003giy.3	+	7	1449	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	WFS1_uc003gix.3_Missense_Mutation_p.P428L|WFS1_uc003giz.3_Missense_Mutation_p.P246L	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	428					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GACTGCATCCCCTGCTCGGAG	0.607000														278			31		0	0	0.000491102	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24565507	24565507	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:24565507G>A	uc002wtw.1	+	2	1129	c.496G>A	c.(496-498)Gac>Aac	p.D166N		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	166					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.D166N(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTACTCAAGCGACACAGAGAG	0.567000														65			26		0	0	0.000720815	0	0
ARSF	416	broad.mit.edu	37	X	3007547	3007547	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:3007547G>A	uc022brz.1	+	6	977	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	ARSF_uc004cre.2_Missense_Mutation_p.E281K|ARSF_uc004crf.2_Missense_Mutation_p.E281K	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	281						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACAGTAAGGAAACTTTCCT	0.428000														90			17		0	0	0.000566183	0	0
CUX2	23316	broad.mit.edu	37	12	111744811	111744811	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:111744811G>A	uc001tsa.2	+	10	1099	c.945G>A	c.(943-945)aaG>aaA	p.K315K		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCTGCTGAAGGACGTGCAGC	0.657000														49			27		0	0	0.000720815	0	0
PPEF1	5475	broad.mit.edu	37	X	18836213	18836213	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:18836213G>A	uc004cyq.3	+	15	1932	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q	PPEF1_uc004cyp.3_Missense_Mutation_p.R456Q|PPEF1_uc004cyr.3_Missense_Mutation_p.R422Q|PPEF1_uc004cys.3_Missense_Mutation_p.R484Q|PPEF1_uc011mja.2_Missense_Mutation_p.R419Q|PPEF1_uc011mjb.2_Missense_Mutation_p.R428Q	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	484	EF-hand 1.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.R484*(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GTGATTTCACGAAAAAGTGAC	0.343000														87			22		0	0	0.000375601	0	0
CST1	1469	broad.mit.edu	37	20	23731457	23731457	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:23731457G>A	uc002wtp.3	-	0	118	c.47C>T	c.(46-48)gCt>gTt	p.A16V		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	16						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CAGGGCCACAGCTAGGGTGGC	0.597000														14			5		0	0	0.000602214	0	0
CFI	3426	broad.mit.edu	37	4	110663746	110663746	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:110663746C>T	uc011cft.2	-	12	1667	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	CFI_uc003hzq.3_Missense_Mutation_p.E276K|CFI_uc003hzr.4_Missense_Mutation_p.E479K	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	479	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AAGACTCTTTCGTTATCTAAA	0.338000														46			7		0	0	8.12818e-05	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37441036	37441036	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:37441036C>T	uc021ppc.1	+	11	1625	c.1526C>T	c.(1525-1527)tCt>tTt	p.S509F	ANKRD30A_uc001iza.1_Missense_Mutation_p.S509F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	565						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAAGAAAATTCTTGGGATTCT	0.323000														48			10		0	0	0.000151284	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147092753	147092753	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:147092753C>A	uc003weu.2	+	9	2067	c.1551C>A	c.(1549-1551)ttC>ttA	p.F517L	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	517	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGCCTTCATTCCAAGGATGCA	0.423000										HNSCC(39;0.1)				64			17		2.94398e-08	2.55784e-07	0.000958276	1	0
PRB2	653247	broad.mit.edu	37	12	11546815	11546815	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:11546815T>C	uc010shk.1	-	2	232	c.197A>G	c.(196-198)aAc>aGc	p.N66S		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGAGGCTGGTTGCCTCCTTG	0.597000														101			10		0	0	0.000958276	0	0
SAFB	6294	broad.mit.edu	37	19	5648043	5648043	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:5648043C>T	uc002mcg.3	+	5	797	c.626C>T	c.(625-627)tCc>tTc	p.S209F	SAFB_uc010xiq.2_Missense_Mutation_p.S209F|SAFB_uc002mcf.3_Missense_Mutation_p.S209F|SAFB_uc002mce.4_Missense_Mutation_p.S209F|SAFB_uc010xis.2_Missense_Mutation_p.S140F|SAFB_uc010xit.2_Missense_Mutation_p.S52F|SAFB_uc010xir.2_Missense_Mutation_p.S209F|SAFB_uc010xiu.2_Missense_Mutation_p.S8F	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	209					chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GAAGAGCCATCCCTGGAGCCA	0.363000														38			19		0	0	0.000229342	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698023	111698023	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:111698023C>T	uc022cct.1	+	0	67	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L	ZCCHC16_uc004epo.1_Silent_p.L23L	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	23							nucleic acid binding|zinc ion binding	p.N22K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGCAGAGAATCTGATTCTGCG	0.498000														75			21		0	0	0.000175454	0	0
PSG11	5680	broad.mit.edu	37	19	43519471	43519471	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:43519471C>T	uc002ovm.1	-	3	868	c.761G>A	c.(760-762)gGa>gAa	p.G254E	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.G132E|PSG11_uc002ovo.1_Missense_Mutation_p.G132E	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	254	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GAGGTTCTCTCCTGAATAGTA	0.463000														105			34		0	0	0.000692331	0	0
MUC20	200958	broad.mit.edu	37	3	195453210	195453210	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:195453210C>T	uc010hzo.3	+	2	1349	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	MUC20_uc010hzp.3_Missense_Mutation_p.A373V|MUC20_uc011bte.1_Non-coding_Transcript	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	579					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCCTCGGAAGCCGCCCTCAAG	0.607000														28			4		0	0	0.000602214	0	0
OTOF	9381	broad.mit.edu	37	2	26717889	26717889	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:26717889G>T	uc002rhk.3	-	8	945	c.818C>A	c.(817-819)cCt>cAt	p.P273H		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	273	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACACCACAGGGTCCATGTT	0.587000														69			20		1.50039e-11	1.30658e-10	0.000229342	1	0
ERAL1	26284	broad.mit.edu	37	17	27185489	27185489	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:27185489C>T	uc002hcy.1	+	5	706	c.696C>T	c.(694-696)gtC>gtT	p.V232V	ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_Silent_p.V39V|MIR451B_uc021ttw.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	232	G.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|rRNA binding|ribosomal small subunit binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			TCCCTAGTGTCCTGGTCATGA	0.547000														53			10		0	0	0.000442599	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46926728	46926728	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:46926728C>T	uc010wlr.2	+	5	683	c.604C>T	c.(604-606)Caa>Taa	p.Q202*	CALCOCO2_uc010wlq.2_Nonsense_Mutation_p.Q106*|CALCOCO2_uc010wls.2_Intron|CALCOCO2_uc002iof.3_Nonsense_Mutation_p.Q178*|CALCOCO2_uc010wlp.2_Nonsense_Mutation_p.Q199*	NM_005831	NP_005822	Q13137	CACO2_HUMAN	Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.	178					response to interferon-gamma|viral reproduction	Golgi apparatus|cytoskeleton|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GGCTGAGCTCCAAAAGAAGCA	0.488000														90			15		0	0	0.000958276	0	0
CACNG2	10369	broad.mit.edu	37	22	37098496	37098496	+	Silent	SNP	G	A	A	rs147878619		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:37098496G>A	uc003aps.2	-	0	195	c.126C>T	c.(124-126)acC>acT	p.T42T	AK123632_uc003apt.1_5'Flank	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	42					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGACACTTTTGGTCTTGCAAA	0.478000														246			41		0	0	0.000509022	0	0
CNTN1	1272	broad.mit.edu	37	12	41333180	41333180	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:41333180C>T	uc001rmm.1	+	11	1385	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	CNTN1_uc009zjy.2_Silent_p.I424I|CNTN1_uc001rmn.1_Silent_p.I413I|CNTN1_uc001rmo.3_Silent_p.I424I	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	424	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGAAAAAGATCCTGGCTGCTA	0.378000														26			8		0	0	0.000274275	0	0
OR4E2	26686	broad.mit.edu	37	14	22134223	22134223	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr14:22134223G>A	uc010tmd.2	+	0	927	c.927G>A	c.(925-927)acG>acA	p.T309T		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T309T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTTTTTTCACGAAATCATATA	0.393000														20			6		0	0	0.000157383	0	0
CADPS2	93664	broad.mit.edu	37	7	122091462	122091462	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:122091462A>G	uc022akp.1	-	13	2664	c.2242T>C	c.(2242-2244)Tct>Cct	p.S748P	CADPS2_uc003vkg.4_Missense_Mutation_p.S449P|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.S749P|CADPS2_uc022akr.1_Missense_Mutation_p.S752P	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	752					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AAAAGGGAAGAGAGTCTCTCT	0.299000														25			5		0	0	8.12818e-05	0	0
OR10A3	26496	broad.mit.edu	37	11	7960357	7960357	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:7960357G>A	uc010rbi.2	-	0	711	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237T(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGTGGAAAAGGCCTTTTGTC	0.443000														38			20		0	0	0.000175454	0	0
COIL	8161	broad.mit.edu	37	17	55027324	55027324	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr17:55027324C>A	uc002iuu.3	-	1	1310	c.1279G>T	c.(1279-1281)Gta>Tta	p.V427L		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	427	2 X 4 AA repeats of S-L-P-A.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTTCTATTTACAACACAGGAA	0.438000														64			18		3.51602e-12	3.06885e-11	0.00121646	1	0
BCL9L	283149	broad.mit.edu	37	11	118771497	118771497	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:118771497G>A	uc001pug.3	-	5	3920	c.2955C>T	c.(2953-2955)gtC>gtT	p.V985V	BCL9L_uc009zal.3_Silent_p.V980V	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	985	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGGTGAACGGACACTGAGGG	0.647000														42			21		0	0	0.000175454	0	0
SDC1	6382	broad.mit.edu	37	2	20402885	20402885	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:20402885G>A	uc002rdo.1	-	3	1025	c.726C>T	c.(724-726)gcC>gcT	p.A242A	SDC1_uc002rdp.1_Silent_p.A242A|SDC1_uc010exv.3_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	242		Cleavage (By similarity).			lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GGCCCTGTGAGGCCCCCGTGG	0.622000														51			22		0	0	0.00047179	0	0
CFTR	1080	broad.mit.edu	37	7	117243607	117243607	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:117243607G>A	uc003vjd.3	+	16	2811	c.2679G>A	c.(2677-2679)ggG>ggA	p.G893G	CFTR_uc011knq.2_Silent_p.G299G	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	893	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.G893G(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAGACAAAGGGAATAGTACTC	0.378000									Cystic Fibrosis					32			9		0	0	0.000442599	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272697	186272697	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:186272697A>G	uc003fqg.3	-	4	1165	c.1036T>C	c.(1036-1038)Tct>Cct	p.S346P	TBCCD1_uc011bry.2_Missense_Mutation_p.S346P|TBCCD1_uc003fqh.3_Missense_Mutation_p.S250P	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	346	C-CAP/cofactor C-like.				cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CGTAAGGGAGAGAGCAGATAT	0.408000														55			19		0	0	0.000586117	0	0
EPHA10	284656	broad.mit.edu	37	1	38227363	38227363	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:38227363G>A	uc009vvi.3	-	2	650	c.564C>T	c.(562-564)ttC>ttT	p.F188F	EPHA10_uc001cbw.4_Silent_p.F188F	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	188						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCCAGGTGGAAACCCCGCC	0.677000														41			14		0	0	0.000958276	0	0
PIBF1	10464	broad.mit.edu	37	13	73409495	73409495	+	Silent	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr13:73409495A>G	uc001vjc.3	+	8	1517	c.1212A>G	c.(1210-1212)gaA>gaG	p.E404E	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Silent_p.E404E|PIBF1_uc010aep.3_5'UTR	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	404						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAATGTATGAACGAGAAAACA	0.269000														91			34		0	0	0.000814825	0	0
TTN	7273	broad.mit.edu	37	2	179584511	179584511	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179584511C>T	uc021vsy.1	-	78	20201	c.19976G>A	c.(19975-19977)gGa>gAa	p.G6659E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3320E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7586	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAAGGATTTCCAGTAGTGAC	0.408000														23			16		0	0	0.000422831	0	0
RTTN	25914	broad.mit.edu	37	18	67727214	67727214	+	Silent	SNP	T	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:67727214T>C	uc002lkp.2	-	35	4880	c.4812A>G	c.(4810-4812)aaA>aaG	p.K1604K	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.K692K|RTTN_uc010dqp.2_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1604							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAACACACAGTTTGGGCAGGG	0.428000														18			14		0	0	0.00121646	0	0
DLX5	1749	broad.mit.edu	37	7	96651668	96651668	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:96651668G>A	uc003uon.3	-	1	577	c.369C>T	c.(367-369)acC>acT	p.T123T	DLX5_uc011kim.1_Silent_p.T123T	NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	123					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CCTCGGGCTCGGTCACTTCTT	0.448000														64			11		0	0	0.000673444	0	0
RHPN2	85415	broad.mit.edu	37	19	33490582	33490582	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:33490582C>T	uc002nuf.3	-	9	1201	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	RHPN2_uc010xro.2_Missense_Mutation_p.E228K|RHPN2_uc002nue.3_Missense_Mutation_p.E109K	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	379	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGGCACTTCTCCTGGTGGTCC	0.577000														41			11		0	0	0.000978159	0	0
MYLK	4638	broad.mit.edu	37	3	123333127	123333127	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:123333127A>G	uc003ego.3	-	33	5852	c.5570T>C	c.(5569-5571)aTa>aCa	p.I1857T	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Missense_Mutation_p.I97T|MYLK_uc003egm.3_Missense_Mutation_p.I96T|MYLK_uc010hrr.3_Missense_Mutation_p.I292T|MYLK_uc011bjv.2_Missense_Mutation_p.I657T|MYLK_uc011bjw.2_Missense_Mutation_p.I1856T|MYLK_uc003egp.3_Missense_Mutation_p.I1788T|MYLK_uc003egq.3_Missense_Mutation_p.I1806T|MYLK_uc003egr.3_Missense_Mutation_p.I1737T|MYLK_uc003egs.3_Missense_Mutation_p.I1681T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1857	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATCGTAGTCTATCTGGAAGTG	0.502000														70			29		0	0	0.000279167	0	0
CCDC30	728621	broad.mit.edu	37	1	43108260	43108260	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:43108260G>A	uc009vwk.1	+	11	1865	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	CCDC30_uc001chm.2_Silent_p.T283T|CCDC30_uc001chn.2_Silent_p.T374T	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	585										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						ACAAATGGACGATATCTTCCA	0.458000														83			14		0	0	0.000566183	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288190	132288190	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:132288190C>T	uc002tta.3	+	2	386	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	CCDC74A_uc002ttb.3_Intron|CCDC74A_uc021vpq.1_Missense_Mutation_p.P112S|CCDC74A_uc021vpr.1_Missense_Mutation_p.P154S	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	112										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GGCCTCTGCTCCCTTGGGCGC	0.642000														23			4		0	0	0.000151284	0	0
DOCK1	1793	broad.mit.edu	37	10	129231674	129231674	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr10:129231674C>T	uc010qun.2	+	47	5106	c.5042C>T	c.(5041-5043)tCc>tTc	p.S1681F	DOCK1_uc001ljt.3_Missense_Mutation_p.S1660F|DOCK1_uc009yaq.3_Missense_Mutation_p.S655F	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1660					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGCACCCCTTCCAGACCAGGC	0.637000														44			24		0	0	0.000375601	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519297	50519297	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr15:50519297A>T	uc001zxw.3	+	6	1611	c.1379A>T	c.(1378-1380)tAt>tTt	p.Y460F	SLC27A2_uc010bes.3_Missense_Mutation_p.Y407F|SLC27A2_uc001zxx.3_Missense_Mutation_p.Y225F	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	460					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GGAGACCTCTATTTCAACAGT	0.383000														38			23		0	0	0.000375601	0	0
H6PD	9563	broad.mit.edu	37	1	9324115	9324115	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:9324115C>T	uc001apt.3	+	4	1836	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	521	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCCGGTTGTTCTTTTCCCAGC	0.642000														51			33		0	0	0.000491102	0	0
MUC16	94025	broad.mit.edu	37	19	9067930	9067930	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:9067930C>T	uc002mkp.3	-	2	19720	c.19516G>A	c.(19516-19518)Gaa>Aaa	p.E6506K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6508	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V6505E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGGTTTTTTCCACAGAGGGT	0.468000														20			7		0	0	8.12818e-05	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737736	62737737	+	Nonsense_Mutation	DNP	AC	TA	TA			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr20:62737736_62737737AC>TA	uc011abt.2	-	0	448_449	c.448_449GT>TA	c.(448-450)gtg>TAg	p.V150*		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	150						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GCGGGACCTCACGGTGGCCAGC	0.634000														16			7		0	0	6.4e-05	0	0
MARCH2	51257	broad.mit.edu	37	19	8486881	8486881	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:8486881C>T	uc002mjv.3	+	2	598	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	MARCH2_uc002mjw.3_Missense_Mutation_p.R53C|MARCH2_uc002mjx.3_Missense_Mutation_p.R53C	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	53					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CACCGTCATCCGTGCCTTGGA	0.617000														44			11		0	0	0.000566183	0	0
OR51E2	81285	broad.mit.edu	37	11	4703390	4703390	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:4703390C>T	uc001lzk.2	-	1	796	c.552G>A	c.(550-552)atG>atA	p.M184I	OR51E2_uc021qcr.1_Missense_Mutation_p.M184I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M184I(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCCAACTTCATTACATCCT	0.498000														78			23		0	0	0.00047179	0	0
MAML2	84441	broad.mit.edu	37	11	95826434	95826434	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:95826434C>G	uc001pfw.1	-	1	2046	c.761G>C	c.(760-762)gGc>gCc	p.G254A		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	254					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAGGCCATTGCCAGGAGAATG	0.473000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									33			21		0	0	0.000229342	0	0
TMEM45A	55076	broad.mit.edu	37	3	100295801	100295801	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:100295801C>T	uc003dua.1	+	6	1014	c.815C>T	c.(814-816)tCc>tTc	p.S272F	TMEM45A_uc003dtz.1_Missense_Mutation_p.S256F|TMEM45A_uc003dub.1_Non-coding_Transcript	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	Homo sapiens transmembrane protein 45A (TMEM45A), mRNA.	256						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AGGCTCTGCTCCTCAGAAGTT	0.383000														77			26		0	0	0.00106085	0	0
ADAM29	11086	broad.mit.edu	37	4	175897899	175897899	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr4:175897899G>A	uc003iuc.3	+	4	1893	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E	ADAM29_uc003iud.3_Missense_Mutation_p.G408E|ADAM29_uc010irr.3_Missense_Mutation_p.G408E|ADAM29_uc011cki.2_Missense_Mutation_p.G408E|ADAM29_uc021xuo.1_Missense_Mutation_p.G408E	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	408	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTTGAAGAAGGAGAAGAGTGT	0.428000														87			24		0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179644729	179644729	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr2:179644729G>A	uc021vsy.1	-	21	3952	c.3727C>T	c.(3727-3729)Cag>Tag	p.Q1243*	TTN_uc021vsz.1_Nonsense_Mutation_p.Q1197*|TTN_uc021vta.1_Nonsense_Mutation_p.Q1197*|TTN_uc021vtb.1_Nonsense_Mutation_p.Q1197*|TTN_uc002unb.2_Nonsense_Mutation_p.Q1243*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1243							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTCACCTGATCTTCTACA	0.313000														84			15		0	0	0.00074312	0	0
EIF2B1	1967	broad.mit.edu	37	12	124114968	124114968	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr12:124114968G>A	uc001ufm.3	-	2	447	c.228C>T	c.(226-228)atC>atT	p.I76I	EIF2B1_uc010tat.2_Silent_p.I76I	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	76					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGGCAAGACTGATGAAGCGGA	0.537000														37			6		0	0	8.12818e-05	0	0
DENND2C	163259	broad.mit.edu	37	1	115161026	115161026	+	Silent	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr1:115161026C>T	uc001efd.1	-	7	2007	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.K378K	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	435										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGTAATTCCTTTCCAGTGT	0.343000														54			30		0	0	0.000339439	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661001	8661001	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:8661001G>A	uc002mkj.1	-	10	1567	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	ADAMTS10_uc002mkk.1_Silent_p.F63F	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	431	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ATGACCACACGAATGGGTTGG	0.592000														71			22		0	0	0.000375601	0	0
OR51B6	390058	broad.mit.edu	37	11	5372797	5372797	+	Silent	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:5372797G>A	uc010qzb.2	+	0	60	c.60G>A	c.(58-60)aaG>aaA	p.K20K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATGGAGAAGGCACATCACT	0.463000														35			13		0	0	0.000308642	0	0
NPIPL2	440348	broad.mit.edu	37	16	74425637	74425637	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr16:74425637C>T	uc010vmt.1	+	5	809	c.808C>T	c.(808-810)Cct>Tct	p.P270S				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	331										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TCCACCCTCTCCTCTTCCACC	0.537000														87			5		0	0	0.00116845	0	0
SYN3	8224	broad.mit.edu	37	22	33265107	33265107	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr22:33265107G>A	uc003amx.3	-	3	629	c.467C>T	c.(466-468)tCc>tTc	p.S156F	SYN3_uc003amy.3_Missense_Mutation_p.S156F|SYN3_uc003amz.3_Missense_Mutation_p.S155F	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	156	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGCTTGAAGGATCTGCTGAG	0.577000														30			10		0	0	0.000978159	0	0
DHX30	22907	broad.mit.edu	37	3	47891505	47891506	+	Frame_Shift_Ins	INS	-	C	C			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr3:47891505_47891506insC	uc003cru.3	+	21	3906_3907	c.3480_3481insC	c.(3478-3483)cttcccfs	p.L1160fs	DHX30_uc003crt.3_Frame_Shift_Ins_p.L1121fs	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	1160						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGCTGCACTTCCCCCCAGCGT	0.683											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	10	---	---	7	---					
THEMIS	387357	broad.mit.edu	37	6	128150677	128150680	+	Frame_Shift_Del	DEL	TCTT	-	-			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr6:128150677_128150680delTCTT	uc011ebt.2	-	2	799_802	c.650_653delAAGA	c.(649-654)aaagacfs	p.K217fs	THEMIS_uc010kfa.3_Frame_Shift_Del_p.K120fs|THEMIS_uc021zfa.1_Frame_Shift_Del_p.K217fs|THEMIS_uc010kfb.3_Frame_Shift_Del_p.K182fs	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	217	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		p.D218N(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ACCATAAAAGTCTTTAGGAAATGG	0.358													---	59	---	---	19	---					
AGAP3	116988	broad.mit.edu	37	7	150831524	150831524	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr7:150831524delT	uc003wjg.1	+	10	1367	c.1364delT	c.(1363-1365)ctgfs	p.L455fs	AGAP3_uc003wje.1_Frame_Shift_Del_p.L227fs|AGAP3_uc003wjj.1_Frame_Shift_Del_p.L11fs	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	419	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GAGATTGACCTGCTGCGGACA	0.637													---	53	---	---	15	---					
ZNF705A	440077	broad.mit.edu	37	8	12216325	12216326	+	Frame_Shift_Ins	INS	-	GC	GC	rs71205065		TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr8:12216325_12216326insGC	uc022asa.1	+	5	438_439	c.322_323insGC	c.(322-324)aacfs	p.N108fs	LOC100506990_uc011kxp.1_Intron			Q6ZN79	Z705A_HUMAN	SubName: Full=Uncharacterized protein;	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		CCCAAAGGAGAACTCTCATTCT	0.361													---	23	---	---	10	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	-	-	rs3812754	byFrequency	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:12316384_12316389delCTCCTA	uc001mkg.1	+	2	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	470	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(4)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													---	3	---	---	5	---					
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	Splice_Site	INS	-	T	T	rs35342965	by1000genomes	TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr11:102738793_102738794insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													---	5	---	---	6	---					
SNRPD1	6632	broad.mit.edu	37	18	19209027	19209038	+	In_Frame_Del	DEL	AGGAAGAGGCAG	-	-			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr18:19209027_19209038delAGGAAGAGGCAG	uc002ktj.1	+	3	419_430	c.288_299delAGGAAGAGGCAG	c.(286-300)gcaggaagaggcaga>gca	p.GRGR109del		NM_006938	NP_008869	P62314	SMD1_HUMAN	Homo sapiens small nuclear ribonucleoprotein D1 polypeptide 16kDa (SNRPD1), mRNA.	109	Arg/Lys-rich (basic).				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex	RNA binding|protein binding			lung(2)|prostate(1)	3						CTTCAGTTGCaggaagaggcagaggaagagga	0.453													---	105	---	---	11	---					
MFSD12	126321	broad.mit.edu	37	19	3542865	3542866	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:3542865_3542866insT	uc002lxw.3	-	9	1700_1701	c.1530_1531insA	c.(1528-1533)gaagccfs	p.E510fs	MFSD12_uc002lxx.3_Intron|MFSD12_uc010dtl.1_5'Flank|C19orf71_uc010xhm.2_Intron	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GCCAGGGGGGCTTCCCAGAGGA	0.634													---	50	---	---	15	---					
TM6SF2	53345	broad.mit.edu	37	19	19380541	19380549	+	In_Frame_Del	DEL	AACCCAGCC	-	-			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chr19:19380541_19380549delAACCCAGCC	uc002nmd.1	-	4	481_489	c.431_439delGGCTGGGTT	c.(430-441)tggctgggttcc>tcc	p.WLG144del	HAPLN4_uc002nmc.3_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	144						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			ATGGCGAAGGAACCCAGCCAGTAGAGTCC	0.550													---	181	---	---	8	---					
SMC1A	8243	broad.mit.edu	37	X	53423149	53423152	+	Frame_Shift_Del	DEL	CTTC	-	-			TCGA-D3-A2JO-06A-11D-A196-08	TCGA-D3-A2JO-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e50ef3e-1069-48b7-a8d3-9c32fe2d3a23	827c28dd-cc54-48c7-9382-057f7b75933c	g.chrX:53423149_53423152delCTTC	uc004dsg.3	-	17	2926_2929	c.2857_2860delGAAG	c.(2857-2862)gaagagfs	p.E953fs	SMC1A_uc011moe.2_Frame_Shift_Del_p.E931fs	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	953					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			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						ATACTCACCTCTTCCTGACTAATA	0.495													---	132	---	---	19	---