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
TRIM62	55223	broad.mit.edu	37	1	33625475	33625475	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:33625475C>T	uc001bxb.3	-	2	1213	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	192						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCCTTCTGGCGTTCACGCAG	0.652												
TIE1	7075	broad.mit.edu	37	1	43779028	43779028	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:43779028G>A	uc001ciu.3	+	12	2327	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	TIE1_uc010okd.2_Missense_Mutation_p.R717H|TIE1_uc010oke.2_Missense_Mutation_p.R672H|TIE1_uc009vwq.3_Missense_Mutation_p.R673H|TIE1_uc010okf.1_Missense_Mutation_p.R362H|TIE1_uc010okg.2_Missense_Mutation_p.R362H	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	717	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TACCTCTTCCGCATGCGGGCC	0.657												
ZNHIT6	54680	broad.mit.edu	37	1	86173500	86173504	+	Frame_Shift_Del	DEL	CTTCT	CTTCT	-			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:86173500_86173504delCTTCT	uc001dlh.3	-	0	613_617	c.464_468delAGAAG	c.(463-468)gagaagfs	p.E155fs	ZNHIT6_uc010osc.2_Frame_Shift_Del_p.E116fs	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	155	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	p.E155K(1)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCAAGTTATCCTTCTCTTCCTTCAC	0.410												
FLG2	388698	broad.mit.edu	37	1	152325024	152325024	+	Silent	SNP	T	T	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:152325024T>C	uc001ezw.4	-	2	5311	c.5238A>G	c.(5236-5238)ggA>ggG	p.G1746G	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1746							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGAGTGTGTCCTGAATGTG	0.502												
F5	2153	broad.mit.edu	37	1	169484809	169484809	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:169484809G>A	uc001ggg.1	-	23	6546	c.6401C>T	c.(6400-6402)aCg>aTg	p.T2134M		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2134	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TATAATTGCCGTTATCTTCTT	0.388												
SELE	6401	broad.mit.edu	37	1	169698774	169698774	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:169698774G>A	uc001ggm.4	-	5	913	c.756C>T	c.(754-756)ttC>ttT	p.F252F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	252	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.F252F(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACATTCCACGAACCCATTGG	0.428												
TTC18	118491	broad.mit.edu	37	10	75051125	75051125	+	Missense_Mutation	SNP	G	G	A	rs141991496		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr10:75051125G>A	uc009xrc.3	-	19	2429	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	TTC18_uc001jty.3_Missense_Mutation_p.R770W|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Missense_Mutation_p.R151W	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	770							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAAGCATCCGTGCCTGAAGC	0.423												
MMP21	118856	broad.mit.edu	37	10	127462500	127462500	+	Silent	SNP	C	C	T	rs138636566		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr10:127462500C>T	uc001liu.3	-	1	597	c.597G>A	c.(595-597)gcG>gcA	p.A199A		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	199					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGAAGGCCAGCGCCACAATGC	0.701												
CNGA4	1262	broad.mit.edu	37	11	6261559	6261559	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:6261559G>A	uc001mco.3	+	3	650	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.V139I	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	179					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTTTTGTCGTCATCCATTG	0.597												
RAG2	5897	broad.mit.edu	37	11	36614338	36614338	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:36614338G>T	uc021qge.1	-	0	1381	c.1381C>A	c.(1381-1383)Ctg>Atg	p.L461M	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.L461M|RAG2_uc021qgd.1_Missense_Mutation_p.L461M|RAG2_uc001mwv.4_Missense_Mutation_p.L461M|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	461					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CGTTCTGCCAGATCCATGCAC	0.498									Familial Hemophagocytic Lymphohistiocytosis			
ACCS	84680	broad.mit.edu	37	11	44105037	44105037	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:44105037G>A	uc009yks.1	+	13	1462	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	EXT2_uc010rfo.2_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.V440M	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	440							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGACAACAAGGTGCTGCTGTC	0.572												
OR5L2	26338	broad.mit.edu	37	11	55594870	55594870	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:55594870T>A	uc001nhy.1	+	0	176	c.176T>A	c.(175-177)gTg>gAg	p.V59E		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	59			V -> M (in dbSNP:rs56711116).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V59M(1)|p.P58>?(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACACCCCCGTGTACTTTTTC	0.468										HNSCC(27;0.073)		
SLC22A9	114571	broad.mit.edu	37	11	63174115	63174115	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:63174115G>A	uc001nww.3	+	6	1488	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	407					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATGAACCGTCGAGCAAGCCAG	0.483												
STYK1	55359	broad.mit.edu	37	12	10772903	10772903	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:10772903C>T	uc001qys.2	-	10	1630	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	370	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGGTGAGGGGCGGTCAGCCTC	0.527										HNSCC(73;0.22)		
TMEM5	10329	broad.mit.edu	37	12	64202634	64202634	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:64202634C>T	uc001srq.1	+	5	1198	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I	TMEM5_uc001srs.1_Missense_Mutation_p.T105I	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	365						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGTGGGAATACATCTGTGCAC	0.478												
OAS2	4939	broad.mit.edu	37	12	113447011	113447011	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:113447011G>T	uc001tuj.3	+	9	2155	c.2015G>T	c.(2014-2016)gGg>gTg	p.G672V	OAS2_uc001tui.1_Missense_Mutation_p.G672V	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	672	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.D671N(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTCAAGGATGGGACTGGAAAC	0.502												
FREM2	341640	broad.mit.edu	37	13	39422735	39422735	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:39422735C>T	uc001uwv.3	+	7	6616	c.6307C>T	c.(6307-6309)Cgc>Tgc	p.R2103C	FREM2_uc001uww.3_Missense_Mutation_p.R189C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2103	Calx-beta 3.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTGGTGCTTCGCATGCCTAT	0.463												
MED4	29079	broad.mit.edu	37	13	48669208	48669208	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:48669208C>T	uc001vby.1	-	0	33	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	MED4_uc010tgf.1_5'UTR	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	Homo sapiens mediator complex subunit 4 (MED4), mRNA.	3					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CTCGAAGACGCAGCCATTTTC	0.662											OREG0022406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CTAGE10P	220429	broad.mit.edu	37	13	50464759	50464759	+	Nonsense_Mutation	SNP	C	C	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:50464759C>G	uc001vdk.2	+	0	215	c.33C>G	c.(31-33)taC>taG	p.Y11*						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		CTCAGCCTTACTGGGGGCTGG	0.617												
ABCC4	10257	broad.mit.edu	37	13	95715015	95715015	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:95715015G>C	uc001vmd.4	-	25	3428	c.3309C>G	c.(3307-3309)atC>atG	p.I1103M	ABCC4_uc010afj.3_5'UTR|ABCC4_uc010afk.3_Missense_Mutation_p.I1056M	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1103	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CAGTTGTCAAGATCTTATCAA	0.423												
RTN1	6252	broad.mit.edu	37	14	60212584	60212584	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:60212584G>A	uc001xen.1	-	1	1066	c.857C>T	c.(856-858)aCg>aTg	p.T286M		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	286					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTCTATTTCCGTCAGTGTGAT	0.458												
SLC25A47	283600	broad.mit.edu	37	14	100795869	100795869	+	Missense_Mutation	SNP	C	C	T	rs145556108	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:100795869C>T	uc001yhc.3	+	5	887	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	SLC25A47_uc001yhd.3_Missense_Mutation_p.R126W	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	272					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGAGGGACCCCGGGTCCTTTT	0.637												
AHNAK2	113146	broad.mit.edu	37	14	105417146	105417146	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:105417146C>T	uc010axc.1	-	6	4762	c.4642G>A	c.(4642-4644)Gct>Act	p.A1548T	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A1448T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1548						nucleus		p.A1548S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGGTCAGCAGAAGGGGGC	0.642												
HERC2P3	283755	broad.mit.edu	37	15	20644280	20644280	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:20644280G>A	uc001ytg.3	-	21	3303	c.2594C>T	c.(2593-2595)aCg>aTg	p.T865M	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.T865M					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGAGTGCAGCGTGTGCAGCAG	0.632												
ATP10A	57194	broad.mit.edu	37	15	25966826	25966827	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:25966826_25966827insAC	uc010ayu.3	-	6	1446_1447	c.1340_1341insGT	c.(1339-1341)gtafs	p.V447fs		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	447					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GAGAATATTCTACACCAGACAC	0.460												
CYP11A1	1583	broad.mit.edu	37	15	74635350	74635350	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:74635350C>T	uc002axt.2	-	4	1113	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	CYP11A1_uc002axs.2_Missense_Mutation_p.V162I|CYP11A1_uc010bjm.1_Missense_Mutation_p.V162I|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.V100I	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	320					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	p.N319H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	ATCTCTGTGACGTTGGCCTTG	0.602												
WASH3P	374666	broad.mit.edu	37	15	102516373	102516373	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:102516373C>T	uc002cdi.3	+	10	2119	c.699C>T	c.(697-699)ccC>ccT	p.P233P	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.P432P(1)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GTGAGGGGCCCGGAGGAGCCT	0.662												
WDR90	197335	broad.mit.edu	37	16	703407	703407	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:703407G>A	uc002cii.1	+	10	1243	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	WDR90_uc002cig.1_Missense_Mutation_p.V397M|WDR90_uc002cih.1_Missense_Mutation_p.V398M|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	397										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGTCCTGCTCGTGGACACGGG	0.701												
TMEM186	25880	broad.mit.edu	37	16	8890029	8890029	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:8890029C>T	uc002cze.3	-	1	456	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	PMM2_uc002czf.4_5'Flank|PMM2_uc010uyf.2_5'Flank|PMM2_uc010uyg.2_5'Flank|PMM2_uc010uyh.2_5'Flank|PMM2_uc010buj.3_5'Flank|PMM2_uc010uyi.2_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	Homo sapiens transmembrane protein 186 (TMEM186), mRNA.	141						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ATGGGCCACCCGCAGCATGGT	0.557												
MMP2	4313	broad.mit.edu	37	16	55525753	55525753	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:55525753C>T	uc002ehz.4	+	7	1532	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	MMP2_uc010vhd.2_Silent_p.H331H|MMP2_uc010ccc.3_Silent_p.H357H	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	407	Collagenase-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGTTTGGCCACGCCATGGGGC	0.577												
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
GAS7	8522	broad.mit.edu	37	17	9822945	9822945	+	Silent	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:9822945A>G	uc002gmg.1	-	11	1377	c.1216T>C	c.(1216-1218)Ttg>Ctg	p.L406L	GAS7_uc010vvc.1_Silent_p.L220L|GAS7_uc002gmh.1_Silent_p.L266L|GAS7_uc010vvd.1_Silent_p.L358L|GAS7_uc002gmi.2_Silent_p.L342L|GAS7_uc002gmj.1_Silent_p.L346L|GAS7_uc010coh.1_Silent_p.L346L	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	406					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCGCTTACCAATGTGGTGGTC	0.567			T	MLL	AML*							
NF1	4763	broad.mit.edu	37	17	29587504	29587504	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:29587504G>A	uc002hgg.3	+	33	4931	c.4548G>A	c.(4546-4548)gaG>gaA	p.E1516E	NF1_uc002hgh.3_Silent_p.E1495E|NF1_uc002hgi.1_Silent_p.E528E	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1516					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAATCAGGAGAAAATTGGGC	0.388			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
KRT9	3857	broad.mit.edu	37	17	39724810	39724810	+	Missense_Mutation	SNP	G	G	A	rs116216460	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:39724810G>A	uc002hxe.4	-	4	1186	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	374	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ACACCGTGCCGGAGCTGGGTC	0.547												
MUC16	94025	broad.mit.edu	37	19	9088857	9088857	+	Silent	SNP	T	T	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr19:9088857T>A	uc002mkp.3	-	0	3162	c.2958A>T	c.(2956-2958)tcA>tcT	p.S986S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	986	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S986L(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						TGGCAGAGGTTGAAACAGTGG	0.463												
CYP4F12	66002	broad.mit.edu	37	19	15791225	15791225	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr19:15791225G>A	uc002nbl.3	+	4	540	c.421G>A	c.(421-423)Ggt>Agt	p.G141S	CYP4F12_uc010xoo.2_Missense_Mutation_p.G141S|CYP4F12_uc010xop.2_Missense_Mutation_p.R172Q	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCTGAGTGGCGGTGACAAGTG	0.552												
CAD	790	broad.mit.edu	37	2	27459352	27459352	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:27459352C>T	uc002rji.3	+	25	4437	c.4275C>T	c.(4273-4275)ccC>ccT	p.P1425P	CAD_uc010eyw.3_Silent_p.P1362P	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1425	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCTCCGTGCCCCTAATCATCG	0.557												
STRN	6801	broad.mit.edu	37	2	37078198	37078198	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:37078198C>T	uc002rpn.3	-	15	2040	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	STRN_uc010ezx.3_Silent_p.P640P	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	677				P -> S (in Ref. 1; CAA11560).	dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGATGCTGATCGGAAGAGTAG	0.303												
LOC401010	401010	broad.mit.edu	37	2	132200935	132200935	+	Missense_Mutation	SNP	C	C	T	rs71345556	by1000genomes	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:132200935C>T	uc002tst.2	-	0	1533	c.1067G>A	c.(1066-1068)aGt>aAt	p.S356N						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		CAGGTTGACACTGGACAGCTT	0.597												
XIRP2	129446	broad.mit.edu	37	2	167760222	167760222	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:167760222A>G	uc002udx.3	+	1	319	c.230A>G	c.(229-231)gAg>gGg	p.E77G	XIRP2_uc010fpn.3_Missense_Mutation_p.E77G|XIRP2_uc010fpo.3_Missense_Mutation_p.E77G	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					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						AAGCCGGAAGAGAAGGATTCT	0.522												
TRAK2	66008	broad.mit.edu	37	2	202252532	202252532	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:202252532G>A	uc002uyb.4	-	12	2036	c.1590C>T	c.(1588-1590)agC>agT	p.S530S		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	530				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAGGCAAGGCTCTCTGTCG	0.512												
CXCR2	3579	broad.mit.edu	37	2	218999840	218999840	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:218999840G>A	uc002vgz.2	+	3	526	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	CXCR2_uc002vha.2_Missense_Mutation_p.A106T|CXCR2_uc002vhb.2_Missense_Mutation_p.A106T|CXCR2_uc021vwp.1_Missense_Mutation_p.A106T	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	106					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.A105A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATCTGGGCCGCCTCCAAGGT	0.552												
SLC5A4	6527	broad.mit.edu	37	22	32634986	32634986	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr22:32634986A>G	uc003ami.3	-	5	571	c.569T>C	c.(568-570)gTt>gCt	p.V190A		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	190					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTGGTGTAAACAGCAGTCAT	0.448												
DNAJB7	150353	broad.mit.edu	37	22	41257669	41257669	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr22:41257669G>T	uc003azj.3	-	0	462	c.330C>A	c.(328-330)caC>caA	p.H110Q	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	110					protein folding		heat shock protein binding|unfolded protein binding	p.H110Q(2)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTCAAAGAAGTGAAAAGAAA	0.388												
SCN10A	6336	broad.mit.edu	37	3	38770174	38770174	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:38770174G>A	uc003ciq.3	-	14	2499	c.2499C>T	c.(2497-2499)caC>caT	p.H833H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	833					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGAAGAAGTCGTGCATGTGCC	0.512												
CCR1	1230	broad.mit.edu	37	3	46245393	46245393	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:46245393C>T	uc003cph.1	-	1	483	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.A138T	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	138					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|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)		GCAAACACGGCGTGGACGATG	0.512												
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:75475709T>C	uc003dpp.4	-	6	888	c.529A>G	c.(529-531)Atc>Gtc	p.I177V	FAM86DP_uc003dps.4_Non-coding_Transcript|FAM86DP_uc003dpq.4_Missense_Mutation_p.I85V|FAM86DP_uc003dpr.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562												
PRR23B	389151	broad.mit.edu	37	3	138739096	138739096	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:138739096G>A	uc003esy.1	-	0	673	c.408C>T	c.(406-408)gtC>gtT	p.V136V		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	136										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGCTCGACGACGACGTCCT	0.652												
MFSD7	84179	broad.mit.edu	37	4	680063	680063	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:680063G>A	uc003gay.3	-	2	380	c.323C>T	c.(322-324)gCc>gTc	p.A108V	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Missense_Mutation_p.A108V|MFSD7_uc003gaz.3_Intron	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	108					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACACTCCCGGCAAAGTTCAG	0.657												
LPHN3	23284	broad.mit.edu	37	4	62598628	62598628	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:62598628A>G	uc010ihh.3	+	4	724	c.551A>G	c.(550-552)gAg>gGg	p.E184G	LPHN3_uc003hcq.4_Missense_Mutation_p.E184G|LPHN3_uc010ihg.1_Missense_Mutation_p.E252G|LPHN3_uc003hcs.1_Missense_Mutation_p.E13G	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	184	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACCCTGACTGAGTATTCATCC	0.493												
HSP90AB3P	3327	broad.mit.edu	37	4	88814526	88814526	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:88814526delT	uc010iko.1	+	3	1153	c.1153delT	c.(1153-1155)tatfs	p.Y385fs						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		CGAGGTGGTATATATGACTGA	0.517												
SLC9B2	133308	broad.mit.edu	37	4	103947532	103947532	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:103947532C>G	uc003hwx.4	-	11	2481	c.1609G>C	c.(1609-1611)Gtt>Ctt	p.V537L	SLC9B2_uc010iln.2_Intron|SLC9B2_uc003hwy.3_Missense_Mutation_p.V537L|SLC9B2_uc011cew.2_Missense_Mutation_p.V480L|SLC9B2_uc011cex.1_3'UTR	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA.	537					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										CACCTCTAAACTTGCACAGAA	0.353												
CARD6	84674	broad.mit.edu	37	5	40852866	40852866	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr5:40852866G>A	uc003jmg.3	+	2	1507	c.1432G>A	c.(1432-1434)Gcc>Acc	p.A478T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	478					apoptosis|regulation of apoptosis	intracellular		p.P477H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTCAGCCCTGCCCAGTTGAA	0.433												
NBPF22P	285622	broad.mit.edu	37	5	85582755	85582755	+	Silent	SNP	A	A	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr5:85582755A>T	uc003kiq.2	+	3	763	c.501A>T	c.(499-501)ccA>ccT	p.P167P						Homo sapiens neuroblastoma breakpoint family, member 22, pseudogene (NBPF22P), non-coding RNA.																		ACCAAAGCCCACCATGCCCCA	0.408												
ATOX1	475	broad.mit.edu	37	5	151125916	151125916	+	Silent	SNP	T	T	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr5:151125916T>C	uc003luk.3	-	2	275	c.177A>G	c.(175-177)ggA>ggG	p.G59G		NM_004045	NP_004036	O00244	ATOX1_HUMAN	Homo sapiens ATX1 antioxidant protein 1 homolog (yeast) (ATOX1), mRNA.	59	HMA.				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AAACAGTCTTTCCTGTTTTCT	0.542												
MBOAT1	154141	broad.mit.edu	37	6	20118736	20118736	+	Missense_Mutation	SNP	T	T	C	rs150163538		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:20118736T>C	uc003ncx.1	-	8	1148	c.943A>G	c.(943-945)Agc>Ggc	p.S315G	MBOAT1_uc011dji.1_Missense_Mutation_p.S166G	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	315					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TCCACTCCGCTGAACCCAAAG	0.393												
GRM4	2914	broad.mit.edu	37	6	34008523	34008523	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:34008523G>A	uc003oir.4	-	5	1534	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	GRM4_uc011dsn.2_Missense_Mutation_p.R344C|GRM4_uc010jvh.3_Missense_Mutation_p.R391C|GRM4_uc010jvi.3_Missense_Mutation_p.R83C|GRM4_uc003oio.3_Missense_Mutation_p.R83C|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.R251C|GRM4_uc003oiq.3_Missense_Mutation_p.R258C|GRM4_uc011dsm.2_Missense_Mutation_p.R222C	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	391					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	ATTCGCTCACGGTCTGCAATG	0.597												
VEGFA	7422	broad.mit.edu	37	6	43752359	43752359	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:43752359A>T	uc003owh.3	+	7					VEGFA_uc003owd.3_3'UTR|VEGFA_uc010jyx.3_3'UTR|VEGFA_uc003owf.3_3'UTR|VEGFA_uc003owg.3_3'UTR|VEGFA_uc003owe.3_3'UTR|VEGFA_uc021yzu.1_3'UTR|VEGFA_uc003owj.3_3'UTR|VEGFA_uc003owi.3_Missense_Mutation_p.K370N|VEGFA_uc003owk.3_Non-coding_Transcript	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.						basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	TCACCAGGAAAGACTGATACA	0.527												
ZNF92	168374	broad.mit.edu	37	7	64864755	64864755	+	Silent	SNP	C	C	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:64864755C>A	uc003ttz.3	+	3	1871	c.1728C>A	c.(1726-1728)tcC>tcA	p.S576S	ZNF92_uc003tua.3_Silent_p.S507S|ZNF92_uc010kzu.3_Silent_p.S544S|ZNF92_uc003tub.3_Silent_p.S500S|ZNF92_uc022afd.1_Non-coding_Transcript	NM_152626	NP_009070	Q03936	ZNF92_HUMAN	Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.	576						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TTAACAAATCCTCAAATTATA	0.348												
MTERF	7978	broad.mit.edu	37	7	91503564	91503564	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:91503564A>G	uc003ulc.1	-	2	620	c.544T>C	c.(544-546)Ttc>Ctc	p.F182L	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Missense_Mutation_p.F162L|MTERF_uc010leu.1_Missense_Mutation_p.F162L	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	182					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GAGTAGAGGAACTTTATATTA	0.378												
CCDC132	55610	broad.mit.edu	37	7	92883220	92883220	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:92883220C>G	uc003umo.3	+	3	401	c.273C>G	c.(271-273)gaC>gaG	p.D91E	CCDC132_uc003ump.3_Missense_Mutation_p.D61E|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Missense_Mutation_p.D91E	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	91										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CGTATAGAGACAAATTGAAAC	0.323												
WNT2	7472	broad.mit.edu	37	7	116960744	116960744	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:116960744G>A	uc003viz.3	-	1	487	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	63					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTAATGGCACGCATCACATCT	0.607												
UBN2	254048	broad.mit.edu	37	7	138978177	138978177	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:138978177C>T	uc011kqr.2	+	15	3869	c.3869C>T	c.(3868-3870)aCc>aTc	p.T1290I		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1290										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TCGGGATCTACCTCAGCCGCT	0.502												
KEL	3792	broad.mit.edu	37	7	142651272	142651272	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:142651272T>C	uc003wcb.3	-	8	1134	c.924_splice	c.e8+1	p.K308_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	308					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)					TCCAGGCACCTTGAGCTGGTC	0.547												
XKR4	114786	broad.mit.edu	37	8	56436491	56436491	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:56436491G>A	uc003xsf.3	+	2	1690	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	553						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCAACAACCGCAGTGTTGTC	0.592												
JPH1	56704	broad.mit.edu	37	8	75171693	75171693	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:75171693C>T	uc003yae.3	-	2	1225	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	JPH1_uc003yaf.3_Silent_p.A395A|JPH1_uc003yag.1_Silent_p.A259A	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	395	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.A395T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAGCGGCCAGCGCGGCCTGGT	0.592												
GEM	2669	broad.mit.edu	37	8	95262754	95262754	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:95262754C>T	uc003ygi.3	-	4	799	c.675G>A	c.(673-675)caG>caA	p.Q225Q	GEM_uc003ygj.3_Silent_p.Q225Q	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	225					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCACGTTGTGCTGGACAGCTG	0.562												
CNTNAP3	79937	broad.mit.edu	37	9	39103796	39103796	+	Silent	SNP	G	G	A	rs145100345	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr9:39103796G>A	uc004abi.3	-	15	2720	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S	CNTNAP3_uc004abj.3_Silent_p.S826S|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.S827S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	827	Laminin G-like 3.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	p.S827S(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAAACACCCCGGAGGAAACTG	0.483												
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	Silent	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr9:141071110A>G	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597												
MST4	51765	broad.mit.edu	37	X	131205232	131205232	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chrX:131205232G>A	uc004ewk.1	+	7	1220	c.919G>A	c.(919-921)Gag>Aag	p.E307K	MST4_uc004ewl.1_Missense_Mutation_p.E230K|MST4_uc011mux.1_Missense_Mutation_p.E329K|MST4_uc010nrj.1_Missense_Mutation_p.E307K|MST4_uc004ewm.1_Missense_Mutation_p.E245K	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	307					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATCTGATTCCGAGGGCTCTGA	0.348												
