Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CACNA1A	773	broad.mit.edu	37	19	13423556	13423556	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:13423556T>C	ENST00000360228.5	-	12	1594	c.1595A>G	c.(1594-1596)gAa>gGa	p.E532G	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	533					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TATAAACATTTCGGACATAAA	0.458000													3	48					0	0	0.004672	0	0
SORT1	6272	broad.mit.edu	37	1	109897024	109897024	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:109897024G>C	ENST00000256637.6	-	5	731	c.673C>G	c.(673-675)Cag>Gag	p.Q225E	SORT1_ENST00000538502.1_Missense_Mutation_p.Q89E	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	225					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCAGAATTCTGAGGGCTATAC	0.383000													5	71					0	0	0.014758	0	0
ABCB1	5243	broad.mit.edu	37	7	87229508	87229508	+	Splice_Site	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:87229508T>C	ENST00000265724.3	-	3	412		c.e3-2			NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1						G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CATTCCGACCTGAAGAGAAAC	0.468000													3	22					0	0	0.009096	0	0
TLR3	7098	broad.mit.edu	37	4	187004157	187004157	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr4:187004157C>T	ENST00000296795.2	+	4	1421	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	TLR3_ENST00000504367.1_Silent_p.G162G	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	439					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGACCTGGGCCTTAATGAAA	0.408000													12	42					0	0	0.013537	0	0
BRD3	8019	broad.mit.edu	37	9	136917540	136917540	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:136917540G>A	ENST00000303407.7	-	3	424	c.239C>T	c.(238-240)cCa>cTa	p.P80L	BRD3_ENST00000357885.2_Missense_Mutation_p.P80L|BRD3_ENST00000371834.2_Missense_Mutation_p.P80L	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	80	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CATATCCATTGGGTTTTTAAT	0.333000			T	C15orf55	lethal midline carcinoma of young people								5	66					0	0	0.021553	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806749	97806749	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:97806749G>A	ENST00000358642.2	+	1	733	c.733G>A	c.(733-735)Gcc>Acc	p.A245T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A245T(2)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CACATGCGGCGCCCATCTGCT	0.423000													7	56					0	0	0.003080	0	0
AGAP1	116987	broad.mit.edu	37	2	236659046	236659046	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:236659046G>A	ENST00000409538.1	+	6	1878	c.1382G>A	c.(1381-1383)aGg>aAg	p.R461K	AGAP1_ENST00000304032.7_Missense_Mutation_p.R196K|AGAP1_ENST00000428334.2_Missense_Mutation_p.R35K|AGAP1_ENST00000409457.1_Missense_Mutation_p.R196K|AGAP1_ENST00000336665.5_Missense_Mutation_p.R196K			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	196	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GCCAGGGCGAGGAAGCTCTCC	0.527000													34	136					0	0	0.017118	0	0
ZNF66	7617	broad.mit.edu	37	19	20976607	20976607	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:20976607C>G	ENST00000344519.8	+	3	172	c.149C>G	c.(148-150)cCa>cGa	p.P50R	ZNF66_ENST00000360204.5_Missense_Mutation_p.P28R|ZNF66_ENST00000594534.1_Missense_Mutation_p.P50R|ZNF66_ENST00000425625.1_Missense_Mutation_p.P96R																							GTCTCAAAGCCAGACCTCATC	0.398000													4	68					0	0	0.009096	0	0
ACO1	48	broad.mit.edu	37	9	32448924	32448924	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:32448924G>C	ENST00000379923.1	+	21	2607	c.2401G>C	c.(2401-2403)Gag>Cag	p.E801Q	ACO1_ENST00000309951.5_Missense_Mutation_p.E801Q|ACO1_ENST00000541043.1_Missense_Mutation_p.E702Q	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	801					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGAGAGCTACGAGCGCATTCA	0.488000													4	61					0	0	0.009096	0	0
LONP2	83752	broad.mit.edu	37	16	48303932	48303932	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr16:48303932C>G	ENST00000285737.4	+	7	1081	c.988C>G	c.(988-990)Ctg>Gtg	p.L330V	LONP2_ENST00000535754.1_Missense_Mutation_p.L286V	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	330					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GACAGACCGCCTGGACATTAG	0.378000													8	42					0	0	0.006214	0	0
OR8I2	120586	broad.mit.edu	37	11	55861330	55861330	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:55861330C>A	ENST00000302124.2	+	1	578	c.547C>A	c.(547-549)Ctt>Att	p.L183I	OR8I2_ENST00000560768.1_Missense_Mutation_p.L183I			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L183F(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CACCACAGCTCTTTTAGCACT	0.438000													15	118					2.31682e-05	2.5485e-05	0.024245	1	0
PRCC	5546	broad.mit.edu	37	1	156770249	156770249	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:156770249C>T	ENST00000271526.4	+	7	1745	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	PRCC_ENST00000353233.3_Silent_p.F459F	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	491					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AATATGGATTCTAGGGCTCTG	0.597000			T	TFE3	papillary renal								11	83					0	0	0.013537	0	0
TSSK2	23617	broad.mit.edu	37	22	19119322	19119322	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr22:19119322T>C	ENST00000399635.2	+	1	1002	c.410T>C	c.(409-411)cTc>cCc	p.L137P	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	137	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CACCGGGACCTCAAGTGCGAG	0.592000													3	85					0	0	0.009096	0	0
DST	667	broad.mit.edu	37	6	56474052	56474052	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:56474052C>G	ENST00000370754.5	-	39	5274	c.5275G>C	c.(5275-5277)Gac>Cac	p.D1759H	DST_ENST00000370769.4_Missense_Mutation_p.D1581H|DST_ENST00000361203.3_Missense_Mutation_p.D1581H|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.D1255H|DST_ENST00000312431.6_Missense_Mutation_p.D1581H|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	1581					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATTCCTGTGTCATAGTCAATG	0.403000													14	300					0	0	0.020292	0	0
LAIR1	3903	broad.mit.edu	37	19	54867583	54867583	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:54867583C>T	ENST00000391743.3	-	8	923	c.643G>A	c.(643-645)Gac>Aac	p.D215N	LAIR1_ENST00000474878.1_Missense_Mutation_p.D215N|LAIR1_ENST00000313038.6_Missense_Mutation_p.D226N|LAIR1_ENST00000391742.2_Missense_Mutation_p.D233N|LAIR1_ENST00000348231.4_Missense_Mutation_p.D216N|LAIR1_ENST00000434277.2_Missense_Mutation_p.D232N			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	233						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GTCTCTCTGTCCTTCTCAGGA	0.473000													20	100					0	0	0.024334	0	0
KCNK15	60598	broad.mit.edu	37	20	43378790	43378790	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:43378790G>C	ENST00000372861.3	+	2	435	c.304G>C	c.(304-306)Ggt>Cgt	p.G102R		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	102						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CGCCGCGCCGGGTACGGACTC	0.682000													3	18					0	0	0.009096	0	0
FGF2	2247	broad.mit.edu	37	4	123797546	123797546	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr4:123797546G>A	ENST00000264498.3	+	2	716	c.648G>A	c.(646-648)ctG>ctA	p.L216L		NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	216					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	ACCGTTACCTGGCTATGAAGG	0.378000													5	53					0	0	0.003080	0	0
ASTN1	460	broad.mit.edu	37	1	176993768	176993768	+	Silent	SNP	A	A	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:176993768A>T	ENST00000367654.2	-	6	1234	c.1221T>A	c.(1219-1221)ccT>ccA	p.P407P	ASTN1_ENST00000367657.3_Silent_p.P407P|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.P407P|ASTN1_ENST00000361833.2_Silent_p.P407P			O14525	ASTN1_HUMAN	astrotactin 1	407					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGACAACGAGAGGGCAGTTGA	0.537000													5	36					0	0	0.014758	0	0
CELSR2	1952	broad.mit.edu	37	1	109793507	109793507	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:109793507G>T	ENST00000271332.3	+	1	867	c.806G>T	c.(805-807)cGa>cTa	p.R269L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	269	Cadherin 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATGCCCCGACGAAGTGCCCTG	0.592000													8	59					1.06961e-07	1.20059e-07	0.003080	1	0
FRG1BP	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	83					0	0	0.009096	0	0
TOPBP1	11073	broad.mit.edu	37	3	133327412	133327412	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:133327412C>G	ENST00000260810.5	-	27	4523	c.4392G>C	c.(4390-4392)ttG>ttC	p.L1464F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1464	BRCT 8.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ATTCTGTTCTCAAGCAGTACA	0.393000								Other conserved DNA damage response genes					11	129					0	0	0.010729	0	0
TRABD2A	129293	broad.mit.edu	37	2	85051178	85051178	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:85051178C>T	ENST00000335459.5	-	5	1291	c.1086G>A	c.(1084-1086)acG>acA	p.T362T	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Silent_p.T411T	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		CCTCACTGGGCGTGTCGGCAC	0.642000													6	25					0	0	0.003080	0	0
PXDNL	137902	broad.mit.edu	37	8	52322037	52322037	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr8:52322037G>T	ENST00000356297.4	-	17	2247	c.2147C>A	c.(2146-2148)cCa>cAa	p.P716Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.P716Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	716					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGCAGTTTGGCAGAGGCCT	0.622000													12	27					7.03913e-09	7.98251e-09	0.013537	1	0
UBBP4	23666	broad.mit.edu	37	17	21730948	21730948	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:21730948C>T	ENST00000584755.1	+	2	647	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	UBBP4_ENST00000578713.1_Silent_p.L84L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CGTGAAGACCCTGACCGGCAA	0.547000													6	59					0	0	0.003080	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78322394	78322394	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:78322394T>C	ENST00000409931.3	-	4	873	c.802A>G	c.(802-804)Ata>Gta	p.I268V	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.I268V			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	268						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TCCTGTACTATGGACTCCTCT	0.453000													9	71					0	0	0.008291	0	0
HFM1	164045	broad.mit.edu	37	1	91851392	91851392	+	Splice_Site	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:91851392C>G	ENST00000370425.3	-	5	593		c.e5-1		HFM1_ENST00000294696.5_Splice_Site|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)								ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTAAATAATCTGCAAACAAA	0.328000													5	59					0	0	0.014758	0	0
TRIM22	10346	broad.mit.edu	37	11	5730360	5730360	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:5730360C>T	ENST00000379965.3	+	8	1256	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	327	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAAAACTGTACGCACCTGCAC	0.413000													8	79					0	0	0.004482	0	0
ZNF833P	401898	broad.mit.edu	37	19	11759238	11759238	+	RNA	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:11759238G>A	ENST00000344893.3	+	0	357					NR_028594.1															endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TGCTGGATCCGTCCCAGAAGA	0.458000													14	76					0	0	0.028581	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539214	27539214	+	RNA	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:27539214G>C	ENST00000574842.1	+	0	483				LRRC37A6P_ENST00000284414.4_RNA																							ACCTGGAGGTGAAACGGTGAC	0.542000													7	184					0	0	0.003080	0	0
DBNL	28988	broad.mit.edu	37	7	44100510	44100510	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:44100510G>C	ENST00000494774.1	+	13	1312	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Missense_Mutation_p.E439Q|DBNL_ENST00000452943.1_Missense_Mutation_p.E406Q|DBNL_ENST00000490734.2_Missense_Mutation_p.E336Q|DBNL_ENST00000456905.1_Missense_Mutation_p.E382Q|DBNL_ENST00000448521.1_Missense_Mutation_p.E430Q|DBNL_ENST00000440166.1_Missense_Mutation_p.E327Q	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	430					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GGAGCTCATTGAGTGAGGCTG	0.572000													3	21					0	0	0.014758	0	0
LCP1	3936	broad.mit.edu	37	13	46732708	46732708	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr13:46732708T>A	ENST00000398576.2	-	7	695	c.307A>T	c.(307-309)Atc>Ttc	p.I103F	LCP1_ENST00000323076.2_Missense_Mutation_p.I103F			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	103					regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GTACCACCGATTGCACAAATC	0.423000			T	BCL6	NHL								20	65					0	0	0.010504	0	0
MED23	9439	broad.mit.edu	37	6	131915244	131915244	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:131915244A>G	ENST00000403834.3	-	23	3418	c.3245T>C	c.(3244-3246)gTc>gCc	p.V1082A	MED23_ENST00000479213.1_5'UTR|MED23_ENST00000545957.1_Missense_Mutation_p.V717A|MED23_ENST00000368058.1_Missense_Mutation_p.V1082A|MED23_ENST00000368060.3_Missense_Mutation_p.V1076A|MED23_ENST00000368068.3_Missense_Mutation_p.V1076A|MED23_ENST00000354577.4_Missense_Mutation_p.V1082A			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1076					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GATATTATCGACTAGTCTGCC	0.318000													4	47					0	0	0.021553	0	0
EVI5L	115704	broad.mit.edu	37	19	7914195	7914195	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:7914195C>T	ENST00000270530.4	+	5	802	c.606C>T	c.(604-606)atC>atT	p.I202I	EVI5L_ENST00000538904.2_Silent_p.I202I	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	202	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCGCCTTCATCGTGGGCCTGC	0.647000													4	46					0	0	0.014758	0	0
DNAH1	25981	broad.mit.edu	37	3	52380551	52380551	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:52380551C>T	ENST00000420323.2	+	11	1981	c.1720C>T	c.(1720-1722)Cgc>Tgc	p.R574C		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	574	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCAGCCTGCGCGACATGAG	0.567000													4	17					0	0	0.014758	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397319	51397319	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:51397319C>G	ENST00000327536.5	-	1	154	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	19										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CCCTTTGGCTCTGCCTCACAG	0.512000													5	119					0	0	0.029380	0	0
POLR1A	25885	broad.mit.edu	37	2	86258685	86258685	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:86258685C>T	ENST00000263857.6	-	30	4724	c.4346G>A	c.(4345-4347)cGa>cAa	p.R1449Q	POLR1A_ENST00000409681.1_Missense_Mutation_p.R1449Q			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1449					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGGGGATTTCGTtcctcctg	0.577000													12	78					0	0	0.010729	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378675	31378675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:31378675C>A	ENST00000297142.3	-	2	530	c.208G>T	c.(208-210)Gaa>Taa	p.E70*		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	70					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E70*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AACCCAttttcatcttcctct	0.483000													24	169					5.35356e-11	6.19886e-11	0.016522	1	0
SLC2A10	81031	broad.mit.edu	37	20	45353758	45353758	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:45353758T>C	ENST00000359271.2	+	2	333	c.83T>C	c.(82-84)gTc>gCc	p.V28A		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	28						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GAACTGGCAGTCATATCAGGT	0.577000													9	96					0	0	0.010729	0	0
NOP58	51602	broad.mit.edu	37	2	203168128	203168128	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:203168128A>G	ENST00000264279.5	+	15	1785	c.1559A>G	c.(1558-1560)aAa>aGa	p.K520R		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	520	Lys-rich.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						aaaaagaagaaaaagaaaaaa	0.368000													10	57					0	0	0.008291	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726721	25726721	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:25726721C>T	ENST00000297012.3	-	1	69	c.35G>A	c.(34-36)cGc>cAc	p.R12H		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	12					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R12P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						AGACTTGGCGCGTGCTTTTCC	0.527000													11	62					0	0	0.016723	0	0
HIATL1	84641	broad.mit.edu	37	9	97218593	97218593	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:97218593C>G	ENST00000375344.3	+	10	1369	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	HIATL1_ENST00000428393.2_Intron	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	367				S -> T (in Ref. 3; BAB55274).	transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				GCCCTCGTCTCTCGGAATGCA	0.577000													4	80					0	0	0.014758	0	0
DOCK4	9732	broad.mit.edu	37	7	111368416	111368416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:111368416G>A	ENST00000428084.1	-	53	6114	c.5842C>T	c.(5842-5844)Cga>Tga	p.R1948*	DOCK4_ENST00000437633.1_Nonsense_Mutation_p.R1939*|DOCK4_ENST00000494651.2_Nonsense_Mutation_p.R822*			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1939	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain 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)				TGGCTGGATCGCGCTGCCAGA	0.692000													6	38					0	0	0.021553	0	0
PARP14	54625	broad.mit.edu	37	3	122411306	122411306	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:122411306A>G	ENST00000474629.2	+	4	780	c.514A>G	c.(514-516)Ata>Gta	p.I172V		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGTGGAGAACATAAGTGGCCT	0.363000													14	65					0	0	0.016723	0	0
ACAP2	23527	broad.mit.edu	37	3	195041540	195041540	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:195041540A>C	ENST00000326793.6	-	10	977	c.747T>G	c.(745-747)gaT>gaG	p.D249E		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	249					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CACTGGAGAAATCCTACACAA	0.348000													3	54					0	0	0.004672	0	0
ZFP37	7539	broad.mit.edu	37	9	115818942	115818942	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:115818942A>C	ENST00000374227.3	-	1	54	c.27T>G	c.(25-27)atT>atG	p.I9M	ZFP37_ENST00000553380.1_Missense_Mutation_p.I9M|ZFP37_ENST00000555206.1_Missense_Mutation_p.I9M			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	9						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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						GCTTTGTCAGAATCTGGACGC	0.682000													9	63					0	0	0.008291	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41265050	41265050	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr22:41265050G>C	ENST00000357137.4	+	2	196	c.112G>C	c.(112-114)Gaa>Caa	p.E38Q	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.E38Q|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.E15Q|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.E38Q	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	38					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GCCTGTCCCAGAAAGGAGGAT	0.458000													7	134					0	0	0.004482	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31							gamma-glutamyltransferase activity	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622000													4	68					0	0	0.009096	0	0
ACAT2	39	broad.mit.edu	37	6	160199708	160199708	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:160199708G>A	ENST00000367048.4	+	9	2801	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	ACAT2_ENST00000472052.1_3'UTR|TCP1_ENST00000321394.7_3'UTR|ACAT2_ENST00000541436.1_Silent_p.G376G	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	347						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGAAGGAGGGGCTATAGCCT	0.443000													16	109					0	0	0.006122	0	0
CHD3	1107	broad.mit.edu	37	17	7806800	7806800	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:7806800C>G	ENST00000380358.4	+	23	3884	c.3883C>G	c.(3883-3885)Cta>Gta	p.L1295V	CHD3_ENST00000358181.4_Missense_Mutation_p.L1236V|CHD3_ENST00000330494.7_Missense_Mutation_p.L1236V	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1236					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACTGAAGAGCTATTCAAGGA	0.542000													7	16					0	0	0.029380	0	0
KIAA0391	9692	broad.mit.edu	37	14	35735973	35735973	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr14:35735973G>C	ENST00000557565.1	+	6	1697	c.1316G>C	c.(1315-1317)cGa>cCa	p.R439P	KIAA0391_ENST00000604948.1_Missense_Mutation_p.R344P|KIAA0391_ENST00000603544.1_Missense_Mutation_p.R423P|KIAA0391_ENST00000605870.1_Missense_Mutation_p.R67P|KIAA0391_ENST00000250377.7_Missense_Mutation_p.R344P|KIAA0391_ENST00000534898.4_Missense_Mutation_p.R439P|KIAA0391_ENST00000321130.10_Missense_Mutation_p.R423P			O15091	MRRP3_HUMAN	KIAA0391	439					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CGGAATCTGCGACTGCTGGTC	0.478000													3	177					0	0	0.009096	0	0
IL1R2	7850	broad.mit.edu	37	2	102642600	102642600	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:102642600C>T	ENST00000332549.3	+	8	1144	c.915C>T	c.(913-915)taC>taT	p.Y305Y	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Silent_p.Y305Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	305	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ATGAGAACTACATTGAAGTGC	0.338000													7	64					0	0	0.003080	0	0
LILRB1	10859	broad.mit.edu	37	19	55143590	55143590	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:55143590G>T	ENST00000396331.1	+	6	920	c.563G>T	c.(562-564)aGc>aTc	p.S188I	LILRB1_ENST00000448689.1_Missense_Mutation_p.S188I|LILRB1_ENST00000434867.2_Missense_Mutation_p.S188I|LILRB1_ENST00000427581.2_Missense_Mutation_p.S224I|LILRB1_ENST00000396321.2_Missense_Mutation_p.S188I|LILRB1_ENST00000324602.7_Missense_Mutation_p.S188I|LILRB1_ENST00000418536.2_Missense_Mutation_p.S188I|LILRB1_ENST00000396315.1_Missense_Mutation_p.S188I|LILRB1_ENST00000396332.4_Missense_Mutation_p.S188I|LILRB1_ENST00000396317.1_Missense_Mutation_p.S188I|LILRB1_ENST00000396327.3_Missense_Mutation_p.S188I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	188	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCCCCGTGAGCCCGAGTCGC	0.587000										HNSCC(37;0.09)			22	159					3.5997e-14	4.21241e-14	0.014323	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90578310	90578310	+	RNA	SNP	A	A	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:90578310A>T	ENST00000551025.1	+	0	6738							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTGGGGTGATACAGGTAGATG	0.403000													6	34					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9008207	9008207	+	Silent	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:9008207G>T	ENST00000397910.4	-	41	39548	c.39345C>A	c.(39343-39345)ccC>ccA	p.P13115P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13117	SEA 7.				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						CCAGGGTGTAGGGGCCCAGCT	0.547000													5	255					0.014758	0.0154608	0.014758	1	0
SLTM	79811	broad.mit.edu	37	15	59186670	59186670	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:59186670G>A	ENST00000380516.2	-	10	1426	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	SLTM_ENST00000536328.1_Missense_Mutation_p.R16C	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	447	RRM.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTCAGTGCGATGAAGATGT	0.413000													7	105					0	0	0.029380	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949576	235949576	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:235949576G>A	ENST00000409212.1	+	4	670	c.163G>A	c.(163-165)Gga>Aga	p.G55R	SH3BP4_ENST00000392011.2_Missense_Mutation_p.G55R|SH3BP4_ENST00000344528.4_Missense_Mutation_p.G55R			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	55	SH3.				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CACACCTTTCGGAAATGCAAA	0.532000													31	157					0	0	0.019004	0	0
SHOX2	6474	broad.mit.edu	37	3	157820662	157820662	+	Silent	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:157820662C>G	ENST00000389589.4	-	3	567	c.432G>C	c.(430-432)ctG>ctC	p.L144L	SHOX2_ENST00000483851.2_Silent_p.L120L|SHOX2_ENST00000425436.3_Silent_p.L120L|SHOX2_ENST00000490689.2_5'UTR|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000441443.2_5'UTR	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	120					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCGATCTTTCAGCTCCGGGG	0.572000													6	73					0	0	0.021553	0	0
KIAA1244	57221	broad.mit.edu	37	6	138576730	138576730	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:138576730A>G	ENST00000251691.4	+	10	1094	c.928A>G	c.(928-930)Act>Gct	p.T310A		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	310					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGCTCCTGCACTGCGCCGGC	0.642000													9	77					0	0	0.004482	0	0
MUC4	4585	broad.mit.edu	37	3	195517410	195517410	+	Silent	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:195517410A>G	ENST00000463781.3	-	2	1500	c.1041T>C	c.(1039-1041)gtT>gtC	p.V347V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.V347V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	352					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGATGTTGTAACCGGTGTGA	0.473000													10	304					0	0	0.008291	0	0
ARID1A	8289	broad.mit.edu	37	1	27088796	27088796	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:27088796A>C	ENST00000324856.7	+	7	2776	c.2405A>C	c.(2404-2406)cAg>cCg	p.Q802P	ARID1A_ENST00000374152.2_Missense_Mutation_p.Q419P|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q802P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	802					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	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		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)		CAGGGGGGTCAGTATGGCCCA	0.532000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								14	80					0	0	0.020292	0	0
TAF1L	138474	broad.mit.edu	37	9	32634244	32634244	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:32634244G>C	ENST00000242310.4	-	1	1423	c.1334C>G	c.(1333-1335)aCa>aGa	p.T445R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	445					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGAGGTTTTGTCCCTTTGTG	0.483000													11	180					0	0	0.013537	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379925	379925	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:379925C>T	ENST00000329962.6	+	16	2548	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	850						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.R850C(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCACGCGCGCACCGGGGA	0.687000													6	51					0	0	0.021553	0	0
OSBPL8	114882	broad.mit.edu	37	12	76750470	76750470	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr12:76750470T>C	ENST00000261183.3	-	23	2952	c.2473A>G	c.(2473-2475)Ata>Gta	p.I825V	OSBPL8_ENST00000393250.4_Missense_Mutation_p.I783V|OSBPL8_ENST00000393249.2_Missense_Mutation_p.I783V	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	825					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CCCAGTTCTATTCCTTTCTTT	0.294000													12	70					0	0	0.016723	0	0
WDR12	55759	broad.mit.edu	37	2	203764342	203764342	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:203764342C>G	ENST00000261015.3	-	4	999	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	84					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCCACGTATTCTATTTCCACA	0.393000													4	72					0	0	0.014758	0	0
ETNK2	55224	broad.mit.edu	37	1	204115797	204115797	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:204115797G>A	ENST00000367202.4	-	3	764	c.614C>T	c.(613-615)aCg>aTg	p.T205M	ETNK2_ENST00000367201.3_Missense_Mutation_p.T205M|ETNK2_ENST00000367198.2_Missense_Mutation_p.T27M|ETNK2_ENST00000367199.2_Intron	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	205							ATP binding|choline kinase activity|ethanolamine kinase activity	p.T205M(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCACAAGCGTGAAATAATT	0.502000													11	94					0	0	0.020292	0	0
HEPHL1	341208	broad.mit.edu	37	11	93778850	93778850	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:93778850T>G	ENST00000315765.9	+	2	190	c.182T>G	c.(181-183)tTa>tGa	p.L61*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	61	Plastocyanin-like 1.				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)				CTTGCAACCTTATTTCTCGAA	0.373000													3	16					0	0	0.004672	0	0
HTR1B	3351	broad.mit.edu	37	6	78172633	78172633	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:78172633G>A	ENST00000369947.2	-	1	857	c.488C>T	c.(487-489)cCc>cTc	p.P163L		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	163					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CGCCCTCTTGGGAGTCCTTTT	0.602000													4	47					0	0	0.009096	0	0
MSX1	4487	broad.mit.edu	37	4	4864702	4864702	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr4:4864702G>A	ENST00000382723.4	+	2	978	c.744G>A	c.(742-744)ccG>ccA	p.P248P	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	242					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGCTGCCACCGGCTGCCTTCG	0.672000													4	25					0	0	0.021553	0	0
NR1I2	8856	broad.mit.edu	37	3	119534276	119534276	+	Silent	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:119534276C>G	ENST00000393716.2	+	7	2883	c.1044C>G	c.(1042-1044)ctC>ctG	p.L348L	NR1I2_ENST00000337940.4_Silent_p.L387L|NR1I2_ENST00000466380.1_Silent_p.L311L	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	348	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CCATCTCCCTCTTCTCCCCAG	0.567000													8	76					0	0	0.004482	0	0
LARP4	113251	broad.mit.edu	37	12	50822793	50822793	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr12:50822793A>G	ENST00000398473.2	+	3	354	c.242A>G	c.(241-243)aAt>aGt	p.N81S	LARP4_ENST00000522085.1_Missense_Mutation_p.N81S|LARP4_ENST00000518561.1_Missense_Mutation_p.N11S|LARP4_ENST00000293618.8_Missense_Mutation_p.N81S|LARP4_ENST00000518444.1_Missense_Mutation_p.N80S|LARP4_ENST00000347328.5_Missense_Mutation_p.N81S|LARP4_ENST00000429001.3_Missense_Mutation_p.N87S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	81							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACCACAAGAAATACTACAGGC	0.333000													10	78					0	0	0.006214	0	0
ANK3	288	broad.mit.edu	37	10	61836161	61836161	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:61836161G>A	ENST00000280772.1	-	37	4669	c.4478C>T	c.(4477-4479)tCa>tTa	p.S1493L	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1493					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGCTTGTATGAGTAAGTGGT	0.418000													8	36					0	0	0.003080	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	83					0	0	0.009096	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928073	178928073	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:178928073G>A	ENST00000263967.3	+	8	1508	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	451	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H450fs*9(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGTACCTCATGGATTAGAAGA	0.348000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	89					0	0	0.013537	0	0
ELF5	2001	broad.mit.edu	37	11	34515223	34515223	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:34515223T>C	ENST00000312319.2	-	3	417	c.188A>G	c.(187-189)tAc>tGc	p.Y63C	ELF5_ENST00000528709.1_Intron|ELF5_ENST00000429939.2_Intron|ELF5_ENST00000532417.1_Missense_Mutation_p.Y53C|ELF5_ENST00000257832.2_Missense_Mutation_p.Y53C	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	63	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CTTAGTCCAGTATTCAGGGTG	0.532000											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	29					0	0	0.021553	0	0
TDRD1	56165	broad.mit.edu	37	10	115980379	115980379	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:115980379G>A	ENST00000251864.2	+	19	2700	c.2547G>A	c.(2545-2547)caG>caA	p.Q849Q	TDRD1_ENST00000369281.2_Silent_p.Q735Q|TDRD1_ENST00000369280.1_Silent_p.Q849Q|TDRD1_ENST00000422662.1_Silent_p.Q453Q|TDRD1_ENST00000369282.1_Silent_p.Q849Q	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	849					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.Q849H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAAGATTCCAGATGTGTGTTG	0.388000													4	78					0	0	0.014758	0	0
FEZF1	389549	broad.mit.edu	37	7	121942271	121942271	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:121942271G>A	ENST00000442488.2	-	4	1275	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	FEZF1_ENST00000331178.4_Missense_Mutation_p.P399L|FEZF1_ENST00000427185.2_Missense_Mutation_p.P353L	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	403					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCCGCACGTGGGGCAGGTGAA	0.562000													20	112					0	0	0.012319	0	0
PSMC1	5700	broad.mit.edu	37	14	90730032	90730032	+	Silent	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr14:90730032G>C	ENST00000261303.8	+	5	409	c.306G>C	c.(304-306)ctG>ctC	p.L102L	PSMC1_ENST00000543772.2_Silent_p.L29L	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TGGATGATCTGAGGGGGACCC	0.443000													9	71					0	0	0.008291	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													3	37					0	0	0.004672	0	0
NPHP4	261734	broad.mit.edu	37	1	5947504	5947504	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:5947504G>A	ENST00000378156.4	-	18	2592	c.2327C>T	c.(2326-2328)cCg>cTg	p.P776L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	776			P -> R (in NPHP4).		actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACAGCCGGCCGGCCTTG	0.637000													10	46					0	0	0.016723	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336618	30336618	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:30336618C>T	ENST00000375377.1	-	2	225	c.124G>A	c.(124-126)Ggc>Agc	p.G42S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	42										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTCTGCAGGCCCTGGCCTGCT	0.637000													7	47					0	0	0.003080	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027283	26027283	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:26027283C>T	ENST00000377364.3	-	1	197	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	66					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CGTCCCGGATCACGTTCTCCA	0.572000											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	70					0	0	0.014758	0	0
INSM2	84684	broad.mit.edu	37	14	36004166	36004166	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr14:36004166C>T	ENST00000307169.3	+	1	919	c.708C>T	c.(706-708)gtC>gtT	p.V236V		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CATCCCCTGTCCTGGGCCTGA	0.662000													8	23					0	0	0.008291	0	0
KIRREL2	84063	broad.mit.edu	37	19	36353394	36353394	+	Splice_Site	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:36353394G>T	ENST00000360202.5	+	12	1708		c.e12-1		KIRREL2_ENST00000586102.2_Splice_Site|KIRREL2_ENST00000262625.7_Splice_Site|KIRREL2_ENST00000347900.6_Splice_Site|KIRREL2_ENST00000592409.1_Intron|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTCCCTGCAGACTTGCTGCC	0.617000													20	136					3.62473e-10	4.15334e-10	0.012319	1	0
ZHX1	11244	broad.mit.edu	37	8	124266308	124266308	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr8:124266308C>G	ENST00000395571.3	-	3	2496	c.1879G>C	c.(1879-1881)Gaa>Caa	p.E627Q	ZHX1_ENST00000297857.2_Missense_Mutation_p.E627Q|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.E627Q	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	627					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTTCTCTTCCTTTAAAGCT	0.383000													3	61					0	0	0.004672	0	0
STX11	8676	broad.mit.edu	37	6	144508521	144508521	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:144508521G>A	ENST00000367568.4	+	2	940	c.757G>A	c.(757-759)Gtc>Atc	p.V253I		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	253	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ACAAAAGACGGTCGACTACAC	0.627000									Familial Hemophagocytic Lymphohistiocytosis				4	30					0	0	0.014758	0	0
GRB10	2887	broad.mit.edu	37	7	50674050	50674050	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:50674050G>A	ENST00000403097.1	-	13	2018	c.1238C>T	c.(1237-1239)cCg>cTg	p.P413L	GRB10_ENST00000398812.2_Missense_Mutation_p.P419L|GRB10_ENST00000439599.1_Missense_Mutation_p.P413L|GRB10_ENST00000357271.5_Missense_Mutation_p.P373L|GRB10_ENST00000401949.1_Missense_Mutation_p.P419L|GRB10_ENST00000407526.1_Missense_Mutation_p.P361L|GRB10_ENST00000402578.1_Missense_Mutation_p.P361L|GRB10_ENST00000402497.1_Missense_Mutation_p.P361L|GRB10_ENST00000398810.2_Missense_Mutation_p.P361L|GRB10_ENST00000335866.3_Missense_Mutation_p.P361L|GRB10_ENST00000406641.1_Missense_Mutation_p.P361L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	419					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CGTCGAGAACGGGGACAGCAA	0.527000									Russell-Silver syndrome				17	97					0	0	0.033300	0	0
DGKE	8526	broad.mit.edu	37	17	54923105	54923105	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:54923105C>A	ENST00000284061.3	+	4	859	c.679C>A	c.(679-681)Cgt>Agt	p.R227S	DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	227	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GGCCAACTCTCGTAGTGGAAC	0.363000													3	71					0.00909568	0.00962043	0.009096	1	0
MROH7	374977	broad.mit.edu	37	1	55118866	55118866	+	Silent	SNP	C	C	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:55118866C>A	ENST00000414150.2	+	3	545	c.267C>A	c.(265-267)atC>atA	p.I89I	MROH7_ENST00000421030.2_Silent_p.I89I|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000395690.2_Silent_p.I89I|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000339553.5_Silent_p.I89I|MROH7_ENST00000454855.2_Intron					maestro heat-like repeat family member 7																		GCAGAGCTATCGCTCCAGCCT	0.557000													4	93					0.00909568	0.00962043	0.009096	1	0
KCNJ8	3764	broad.mit.edu	37	12	21926400	21926400	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr12:21926400G>A	ENST00000240662.2	-	2	496	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	51						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CCTTGCTCACGGATGTTCTTA	0.602000											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	73					0	0	0.013537	0	0
POLR2A	5430	broad.mit.edu	37	17	7416619	7416619	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:7416619C>T	ENST00000322644.6	+	29	5435	c.5036C>T	c.(5035-5037)tCa>tTa	p.S1679L		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1679	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				cccagctactcacccacttcc	0.617000													3	13					0	0	0.004672	0	0
FAM153A	285596	broad.mit.edu	37	5	177163583	177163583	+	Nonsense_Mutation	SNP	C	C	A	rs143733594		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr5:177163583C>A	ENST00000440605.3	-	11	713	c.430G>T	c.(430-432)Gaa>Taa	p.E144*	FAM153A_ENST00000513554.1_Intron|FAM153A_ENST00000510276.1_Nonsense_Mutation_p.E144*|FAM153A_ENST00000393518.3_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	144								p.E144K(3)		kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACGTACATTCGGCCAGTGTG	0.458000													4	71					0.00909568	0.00962043	0.009096	1	0
ZNF276	92822	broad.mit.edu	37	16	89804234	89804234	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr16:89804234G>C	ENST00000289816.5	+	10	1582	c.1270G>C	c.(1270-1272)Gac>Cac	p.D424H	ZNF276_ENST00000443381.2_Missense_Mutation_p.D499H|ZNF276_ENST00000446326.2_Missense_Mutation_p.D285H|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_Missense_Mutation_p.D407H	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTATATCTGTGACGAATGTGG	0.557000													3	72					0	0	0.004672	0	0
MEIS2	4212	broad.mit.edu	37	15	37184422	37184422	+	Silent	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:37184422A>G	ENST00000338564.5	-	13	1811	c.1365T>C	c.(1363-1365)tcT>tcC	p.S455S	MEIS2_ENST00000382766.2_Silent_p.S455S|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000561208.1_Silent_p.S462S|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000397624.3_3'UTR	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	462					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGGGATCTACAGAATTTAACA	0.483000													46	301					0	0	0.014410	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	57					0	0	0.009096	0	0
GRHL2	79977	broad.mit.edu	37	8	102589743	102589743	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr8:102589743C>T	ENST00000251808.3	+	7	1337	c.999C>T	c.(997-999)gaC>gaT	p.D333D	GRHL2_ENST00000395927.1_Silent_p.D317D	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	333						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGGTCCTTGACATTGGTAAGT	0.483000													7	83					0	0	0.029380	0	0
HRNR	388697	broad.mit.edu	37	1	152187542	152187542	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:152187542T>C	ENST00000368801.2	-	3	6638	c.6563A>G	c.(6562-6564)cAt>cGt	p.H2188R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2188					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGGACCCATGTCGGCCGCG	0.647000													13	243					0	0	0.008871	0	0
MYH10	4628	broad.mit.edu	37	17	8526560	8526560	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:8526560G>C	ENST00000360416.3	-	2	143	c.5C>G	c.(4-6)gCg>gGg	p.A2G	MYH10_ENST00000396239.1_Missense_Mutation_p.A2G|MYH10_ENST00000379980.4_Missense_Mutation_p.A2G|MYH10_ENST00000269243.4_Missense_Mutation_p.A2G	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	2	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGTTCTCTGCGCCATTGTAAA	0.433000													4	50					0	0	0.009096	0	0
CELSR2	1952	broad.mit.edu	37	1	109794913	109794915	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:109794913_109794915delGAT	ENST00000271332.3	+	1	2273_2275	c.2212_2214delGAT	c.(2212-2214)del	p.D738del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	738	Cadherin 6.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGCGCCACGGATGAGGACACAG	0.596													9	54	---	---	---	---					
IGKV2D-24	28885	broad.mit.edu	37	2	90044356	90044356	+	RNA	DEL	G	G	-			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:90044356delG	ENST00000462693.1	+	0	307																											CAGTGGGGCAGGGACAGATTT	0.517													34	242	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179585124	179585128	+	Frame_Shift_Del	DEL	CAGAG	CAGAG	-			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:179585124_179585128delCAGAG	ENST00000589042.1	-	80	23585_23589	c.23361_23365delCTCTG	c.(23359-23367)tgtcfs	p.CSV7787fs	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.CSV7470fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.CSV6543fs|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7470	Ig-like 60.						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)			TTGAACTTGACAGAGCAAGAACACG	0.405													14	164	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7576868	7576886	+	Frame_Shift_Del	DEL	TTCTCCATCCAGTGGTTTC	TTCTCCATCCAGTGGTTTC	-	rs121912659		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:7576868_7576886delTTCTCCATCCAGTGGTTTC	ENST00000420246.2	-	9	1092_1110	c.960_978delGAAACCACTGGATGGAGAA	c.(958-978)aafs	p.KKPLDGE320fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.KKPLDGE320fs|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	320	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		K -> N (in sporadic cancers; somatic mutation).		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.0?(8)|p.E326*(4)|p.K321fs*24(4)|p.P322fs*23(3)|p.K320N(3)|p.K321_P322insK(2)|p.P318fs*15(2)|p.D324E(2)|p.P322L(2)|p.P322R(2)|p.K321*(2)|p.G325*(1)|p.S315fs*22(1)|p.L323fs*22(1)|p.K321K(1)|p.P318fs*21(1)|p.Y327fs*10(1)|p.D324fs*29(1)|p.L323V(1)|p.L323R(1)|p.?(1)|p.L323P(1)|p.D324fs*21(1)|p.G325fs*23(1)|p.L308fs*15(1)|p.L323G(1)|p.L323M(1)|p.K320K(1)|p.G325A(1)|p.D324D(1)|p.G325E(1)|p.E326K(1)|p.D324S(1)|p.G325V(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)		GGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCT	0.452		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)			8	86	---	---	---	---					
GPM6B	2824	broad.mit.edu	37	X	13801551	13801553	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chrX:13801551_13801553delGTG	ENST00000454189.2	-	3	406_408	c.279_281delCAC	c.(277-282)aca>ac	p.TT93del	GPM6B_ENST00000398361.3_In_Frame_Del_p.TT26del|GPM6B_ENST00000316715.4_In_Frame_Del_p.TT152del|GPM6B_ENST00000356942.5_In_Frame_Del_p.TT112del|GPM6B_ENST00000355135.2_In_Frame_Del_p.TT152del|GPM6B_ENST00000493677.1_In_Frame_Del_p.TT126del	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	112					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CACTGCACTTGTGGTGTAAAAGC	0.424													22	78	---	---	---	---					
