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
ATAD3B	83858	broad.mit.edu	37	1	1430871	1430871	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:1430871G>A	uc001afv.3	+	15	1722	c.1621G>A	c.(1621-1623)Gca>Aca	p.A541T	ATAD3B_uc021oeq.1_Intron|ATAD3B_uc001afx.3_Missense_Mutation_p.A495T	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	541							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTAGGCCACGGCATATGCCTC	0.632												
TPM3	7170	broad.mit.edu	37	1	154148652	154148652	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:154148652G>A	uc001fec.1	-	2	431	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Missense_Mutation_p.R69C|TPM3_uc001fdz.1_Missense_Mutation_p.R69C|TPM3_uc001fea.1_Missense_Mutation_p.R69C|TPM3_uc001feb.1_Missense_Mutation_p.R69C|TPM3_uc010pej.1_Intron|TPM3_uc001fed.1_Missense_Mutation_p.R69C	NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	105					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GTGGCCAGGCGCTCCTGAGCA	0.527			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""							
NR1I3	9970	broad.mit.edu	37	1	161206281	161206281	+	Silent	SNP	C	C	T	rs140012276	byFrequency	TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:161206281C>T	uc001fzx.3	-	1	278	c.75G>A	c.(73-75)gcG>gcA	p.A25A	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Silent_p.A25A|NR1I3_uc001fzm.3_Intron|NR1I3_uc001fzn.3_5'UTR|NR1I3_uc001fzf.3_Silent_p.A25A|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Silent_p.A25A|NR1I3_uc001fzq.3_Silent_p.A25A|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Silent_p.A25A|NR1I3_uc001fzw.3_Silent_p.A25A|NR1I3_uc001fzz.3_Silent_p.A25A|NR1I3_uc001fzh.3_Intron|NR1I3_uc001gab.3_Silent_p.A25A|NR1I3_uc001gac.3_Intron|NR1I3_uc001fzp.3_Silent_p.A25A|NR1I3_uc001fzg.3_Intron|NR1I3_uc001gaa.3_Silent_p.A25A|NR1I3_uc001fzj.3_Intron|NR1I3_uc001fzi.3_Intron|NR1I3_uc001fzl.3_Intron|NR1I3_uc001fzk.3_Intron|NR1I3_uc010pkm.2_Intron|NR1I3_uc010pkn.1_Silent_p.A25A	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	25					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.A25V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACAAGTCAGCGCATTAAAGT	0.532												
AGT	183	broad.mit.edu	37	1	230846235	230846235	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:230846235T>A	uc001hty.4	-	1	870	c.362A>T	c.(361-363)cAc>cTc	p.H121L	AGT_uc009xff.3_Missense_Mutation_p.H93L	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	121					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TAGCTCACTGTGCATGCCATA	0.582												
TACC2	10579	broad.mit.edu	37	10	123810032	123810032	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr10:123810032C>T	uc001lfv.3	+	2	473	c.113C>T	c.(112-114)aCg>aTg	p.T38M	TACC2_uc001lfw.3_Missense_Mutation_p.T38M|TACC2_uc009xzx.3_Missense_Mutation_p.T38M|TACC2_uc010qtv.2_Missense_Mutation_p.T38M	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	38						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.T38M(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGCAGGACACGCCCGGAAGC	0.577												
JAKMIP3	282973	broad.mit.edu	37	10	133967449	133967449	+	Silent	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr10:133967449C>T	uc001lkx.4	+	17	2169	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	JAKMIP3_uc009yba.1_Silent_p.D160D	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCTACCTGGACGAGGAGCTGG	0.632												
NAALAD2	10003	broad.mit.edu	37	11	89868837	89868837	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr11:89868837C>T	uc001pdf.4	+	2	303	c.194_splice	c.e2+1	p.R65_splice	NAALAD2_uc009yvx.3_Splice_Site_p.R65_splice|NAALAD2_uc009yvy.3_Splice_Site_p.R65_splice|NAALAD2_uc001pdd.2_Splice_Site_p.R65_splice|NAALAD2_uc001pde.3_Splice_Site_p.R65_splice	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	65					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATCATTTCTTCGGTAAGTTTA	0.348												
FAT3	120114	broad.mit.edu	37	11	92570936	92570936	+	Silent	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr11:92570936G>A	uc001pdj.4	+	15	10349	c.10332G>A	c.(10330-10332)ccG>ccA	p.P3444P	FAT3_uc001pdi.4_5'Flank	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3444	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAACAGCCCGGTGTTTACAC	0.468										TCGA Ovarian(4;0.039)		
PANX3	116337	broad.mit.edu	37	11	124489539	124489539	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr11:124489539G>A	uc001qah.3	+	3	887	c.887G>A	c.(886-888)cGg>cAg	p.R296Q		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	296					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.R296Q(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CGGCTATGTCGGTGGGACAAA	0.438												
SLC2A14	144195	broad.mit.edu	37	12	7980269	7980269	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:7980269C>T	uc010sgh.2	-	5	821	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	SLC2A14_uc001qtk.3_Missense_Mutation_p.R252Q|SLC2A14_uc001qtl.3_Missense_Mutation_p.R229Q|SLC2A14_uc001qtm.3_Missense_Mutation_p.R229Q|SLC2A14_uc010sgg.2_Missense_Mutation_p.R143Q|SLC2A14_uc001qtn.3_Missense_Mutation_p.R252Q|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	252					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.R252Q(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCCCCACAACCGCTGGAGGAC	0.502												
SLC2A3	6515	broad.mit.edu	37	12	8082458	8082458	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:8082458C>T	uc001qtr.3	-	5	945	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	228					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.R228Q(2)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCCCCACAACCGCTGGAGGAC	0.493												
MTERFD3	80298	broad.mit.edu	37	12	107371855	107371855	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:107371855A>G	uc001tme.1	-	1	2457	c.638T>C	c.(637-639)tTa>tCa	p.L213S	MTERFD3_uc001tmf.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmg.1_Missense_Mutation_p.L213S|MTERFD3_uc021rdh.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmh.1_Missense_Mutation_p.L213S	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTTTTGGCTTAACAATTTTAG	0.383												
BTBD11	121551	broad.mit.edu	37	12	108012011	108012011	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:108012011G>A	uc001tmk.1	+	9	2829	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.E770K|BTBD11_uc001tml.1_Missense_Mutation_p.E307K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	770						integral to membrane	DNA binding	p.A769T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GATTCTGGCCGAGGGGACTGA	0.607												
MYH6	4624	broad.mit.edu	37	14	23858709	23858709	+	Silent	SNP	G	G	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr14:23858709G>T	uc001wjv.3	-	27	3942	c.3871C>A	c.(3871-3873)Cgg>Agg	p.R1291R	MIR208A_uc010tnn.2_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1291					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTAGCTGCCGGGCCAACTCT	0.582												
AKAP6	9472	broad.mit.edu	37	14	33290999	33290999	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr14:33290999A>G	uc001wrq.3	+	12	4150	c.3980A>G	c.(3979-3981)gAc>gGc	p.D1327G		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1327					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCAGTAAAGACTCTTCATTT	0.418												
EML1	2009	broad.mit.edu	37	14	100363606	100363606	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr14:100363606G>A	uc001ygr.3	+	7	928	c.859G>A	c.(859-861)Gct>Act	p.A287T	EML1_uc010avt.1_Missense_Mutation_p.A255T|EML1_uc010tww.2_Missense_Mutation_p.A256T|EML1_uc001ygq.3_Missense_Mutation_p.A287T|EML1_uc001ygs.3_Missense_Mutation_p.A268T	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	268						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GAGGCATTACGCTGGCCACAA	0.542												
WDR72	256764	broad.mit.edu	37	15	53998200	53998200	+	Silent	SNP	A	A	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr15:53998200A>T	uc002acj.2	-	9	1068	c.1026T>A	c.(1024-1026)tcT>tcA	p.S342S	WDR72_uc010bfi.1_Silent_p.S342S	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	342								p.F341L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGACTTCTCCAGAGAAAAGTA	0.403												
DNM1P47	100216544	broad.mit.edu	37	15	102292749	102292749	+	Silent	SNP	A	A	C			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr15:102292749A>C	uc010usj.2	+	3	396	c.337A>C	c.(337-339)Aga>Cga	p.R113R	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		AGGAGTCGGCAGAGCAGGCAC	0.597												
GNPTG	84572	broad.mit.edu	37	16	1412529	1412529	+	Silent	SNP	C	C	T	rs146171435	byFrequency	TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr16:1412529C>T	uc002clm.3	+	7	670	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA.	201						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGCTGATCACCCCCCAGGTAA	0.667												
MAPK8IP3	23162	broad.mit.edu	37	16	1815961	1815961	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr16:1815961C>T	uc010uvl.2	+	21	2567	c.2447_splice	c.e21-1	p.A816_splice	MAPK8IP3_uc002cmk.3_Splice_Site_p.A815_splice|MAPK8IP3_uc002cml.3_Splice_Site_p.A805_splice|MAPK8IP3_uc021tah.1_Splice_Site_p.A809_splice	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	815					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CTCTCCCCAGCGGCCAGCGAC	0.687												
SPATA22	84690	broad.mit.edu	37	17	3366028	3366028	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:3366028G>A	uc002fvm.3	-	3	444	c.206C>T	c.(205-207)gCt>gTt	p.A69V	SPATA22_uc010vrg.2_Missense_Mutation_p.A53V|SPATA22_uc010vrf.2_Missense_Mutation_p.A69V|SPATA22_uc002fvo.3_Missense_Mutation_p.A69V|SPATA22_uc002fvn.3_Missense_Mutation_p.A69V|SPATA22_uc002fvp.3_Missense_Mutation_p.A69V|SPATA22_uc010ckf.3_Missense_Mutation_p.A26V	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	69										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CATTACAGGAGCCAACTCTGG	0.348												
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)		
TP53	7157	broad.mit.edu	37	17	7578396	7578396	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:7578396G>T	uc002gim.2	-	4	728	c.534C>A	c.(532-534)caC>caA	p.H178Q	TP53_uc002gig.1_Missense_Mutation_p.H178Q|TP53_uc002gih.3_Missense_Mutation_p.H178Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H46Q|TP53_uc010cnf.1_Missense_Mutation_p.H46Q|TP53_uc002gii.1_Missense_Mutation_p.H46Q|TP53_uc010cni.1_Missense_Mutation_p.H178Q|TP53_uc010cnh.1_Missense_Mutation_p.H178Q|TP53_uc002gij.2_Missense_Mutation_p.H178Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H85Q|TP53_uc002gio.2_Missense_Mutation_p.H46Q|TP53_uc010vug.2_Missense_Mutation_p.H139Q	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	178	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.P177L(17)|p.P177_C182delPHHERC(16)|p.P177R(16)|p.H178fs*69(15)|p.H178Q(10)|p.P177P(10)|p.H179Y(8)|p.H178Y(8)|p.0?(8)|p.P177S(8)|p.H178fs*3(7)|p.C176_R181delCPHHER(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178D(5)|p.P177fs*3(4)|p.H178_S183delHHERCS(4)|p.H178H(4)|p.R174fs*24(3)|p.P177H(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.R175_H178>X(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.H178del(2)|p.R174_E180>K(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.H178_H179>QY(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.C176fs*68(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.P177_C182del(1)|p.P177fs*4(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P177I(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.P177T(1)|p.E171fs*61(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)		AGCGCTCATGGTGGGGGCAGC	0.642		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)		
HOXB1	3211	broad.mit.edu	37	17	46607715	46607715	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:46607715C>A	uc002ink.1	-	0	558	c.552G>T	c.(550-552)aaG>aaT	p.K184N	HOXB1_uc021tzf.1_Missense_Mutation_p.K184N	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	184						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.M183I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCTCTTAACCTTCATCCAGT	0.592												
FUT5	2527	broad.mit.edu	37	19	5867712	5867712	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:5867712G>T	uc002mdo.4	-	1	196	c.25C>A	c.(25-27)Cca>Aca	p.P9T	FUT5_uc010duo.3_Missense_Mutation_p.P9T|FUT5_uc021uno.1_Missense_Mutation_p.P9T	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	9					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGCCACTGTGGCTTGGCTGGG	0.607												
ILF3	3609	broad.mit.edu	37	19	10789305	10789305	+	Silent	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:10789305C>T	uc002mpn.3	+	5	893	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Silent_p.N192N|ILF3_uc002mpl.2_Silent_p.N192N|ILF3_uc002mpk.2_Silent_p.N192N|ILF3_uc002mpo.3_Silent_p.N192N|ILF3_uc002mpp.3_Silent_p.N13N	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	192	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TATCAGTCAACGACCCCCCGG	0.502												
PODNL1	79883	broad.mit.edu	37	19	14046616	14046616	+	Missense_Mutation	SNP	G	G	A	rs142083249		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:14046616G>A	uc002mxr.3	-	4	707	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PODNL1_uc010xni.2_Missense_Mutation_p.R63W|PODNL1_uc010xnj.2_Missense_Mutation_p.R143W|PODNL1_uc002mxs.3_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	145	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CGGAGGGACCGGGGCAGAAAC	0.657												
NLRP5	126206	broad.mit.edu	37	19	56538455	56538455	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:56538455G>A	uc002qmj.3	+	6	856	c.856G>A	c.(856-858)Gga>Aga	p.G286R	NLRP5_uc002qmi.3_Missense_Mutation_p.G267R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	286	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGTTCTGCACGGAAAGTCAGG	0.547												
ZNF583	147949	broad.mit.edu	37	19	56934399	56934399	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:56934399T>G	uc010ygl.1	+	4	537	c.372T>G	c.(370-372)agT>agG	p.S124R	ZNF583_uc002qnc.2_Missense_Mutation_p.S124R|ZNF583_uc010ygm.1_Missense_Mutation_p.S124R	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ACTGTCAAAGTGAGGACTGGT	0.383												
C2orf63	130162	broad.mit.edu	37	2	55439915	55439915	+	Silent	SNP	C	C	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:55439915C>A	uc002ryi.2	-	4	739	c.393G>T	c.(391-393)tcG>tcT	p.S131S	C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Silent_p.S9S	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	131							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			ATTGAATCTTCGAGGAATTAC	0.338												
ALMS1	7840	broad.mit.edu	37	2	73680365	73680365	+	Silent	SNP	A	A	G			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:73680365A>G	uc002sje.1	+	7	6819	c.6708A>G	c.(6706-6708)gaA>gaG	p.E2236E	ALMS1_uc002sjf.1_Silent_p.E2194E|ALMS1_uc002sjg.3_Silent_p.E1624E|ALMS1_uc002sjh.1_Silent_p.E1624E	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2236					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATAAACCAGAATCTGCAGGTT	0.363												
PLCL1	5334	broad.mit.edu	37	2	198950756	198950756	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:198950756G>A	uc010fsp.3	+	1	2913	c.2515G>A	c.(2515-2517)Gta>Ata	p.V839I	PLCL1_uc002uuv.4_Missense_Mutation_p.V760I	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	839					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.V839I(1)|p.V741I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CATGGAGCACGTAACCCTTTT	0.453												
SLC11A1	6556	broad.mit.edu	37	2	219255987	219255987	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:219255987G>A	uc002vhv.3	+	9	1361	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	SLC11A1_uc010fvp.1_Missense_Mutation_p.V341M|SLC11A1_uc010fvq.1_Missense_Mutation_p.V274M|SLC11A1_uc010zkc.1_Missense_Mutation_p.V274M|SLC11A1_uc002vhu.1_Missense_Mutation_p.V136M|SLC11A1_uc002vhw.3_Missense_Mutation_p.V223M|SLC11A1_uc010fvr.3_Missense_Mutation_p.V136M	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	341					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAACGCCACCGTGGCCGTGGA	0.627												
OBSL1	23363	broad.mit.edu	37	2	220422920	220422920	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:220422920T>C	uc010fwk.3	-	9	3802	c.3488A>G	c.(3487-3489)aAt>aGt	p.N1163S	OBSL1_uc002vmh.1_Missense_Mutation_p.N154S|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.2_Missense_Mutation_p.N1163S	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1163	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGGATGACATTGAAGGTGAT	0.657												
TSHZ2	128553	broad.mit.edu	37	20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr20:51872260C>T	uc002xwo.3	+	1	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	TSHZ2_uc021wex.1_Missense_Mutation_p.R752C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	755					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGTCCAGGCGCTACCTGTT	0.512												
FAM83F	113828	broad.mit.edu	37	22	40417570	40417570	+	Silent	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr22:40417570C>T	uc003ayk.1	+	3	1150	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	352								p.A351T(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GGGAGGCGGGCGGCAACCCGG	0.687												
PKDREJ	10343	broad.mit.edu	37	22	46656782	46656782	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr22:46656782C>A	uc003bhh.3	-	0	2438	c.2438G>T	c.(2437-2439)aGt>aTt	p.S813I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	813	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTAGACAAACTCATTAGTAT	0.348												
CLEC3B	7123	broad.mit.edu	37	3	45077083	45077083	+	Silent	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr3:45077083C>T	uc003cok.4	+	2	372	c.276C>T	c.(274-276)caC>caT	p.H92H		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	92	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACCTTCCACGAGGCCAGCG	0.627												
NPRL2	10641	broad.mit.edu	37	3	50387203	50387203	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr3:50387203G>A	uc003daj.1	-	2	635	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	78	Interaction with PDPK1.				negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						AGAGCATTGCGGCTGTACTTC	0.547												
DZIP1L	199221	broad.mit.edu	37	3	137796433	137796433	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr3:137796433C>T	uc003erq.3	-	10	1693	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	DZIP1L_uc003err.1_Missense_Mutation_p.A444T	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	444						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CGCCTCAGAGCTGCCAGCACC	0.537												
ANAPC4	29945	broad.mit.edu	37	4	25396471	25396471	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr4:25396471G>T	uc003gro.3	+	13	1134	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	ANAPC4_uc003grp.3_Missense_Mutation_p.Q220H|ANAPC4_uc010ieu.1_Intron|ANAPC4_uc010iet.1_Missense_Mutation_p.Q115H	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	335					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AGCTTGGCCAGTCTATAGAGT	0.313												
UGT2B28	54490	broad.mit.edu	37	4	70156391	70156391	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr4:70156391T>C	uc003hej.3	+	4	1174	c.1172T>C	c.(1171-1173)gTa>gCa	p.V391A	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	391					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATCCCTATGGTAGGCATTCCA	0.448												
DNAH5	1767	broad.mit.edu	37	5	13727709	13727709	+	Silent	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:13727709C>T	uc003jfd.2	-	69	11982	c.11940G>A	c.(11938-11940)gaG>gaA	p.E3980E	DNAH5_uc003jfc.2_Silent_p.E148E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3980					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3980K(1)|p.E3979*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAGAGGTTCCTCCTCCGGGT	0.413									Kartagener syndrome			
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
MTX3	345778	broad.mit.edu	37	5	79284349	79284349	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:79284349A>T	uc010jag.3	-	4	467	c.440T>A	c.(439-441)cTg>cAg	p.L147Q	MTX3_uc010jah.3_Missense_Mutation_p.L147Q|MTX3_uc003kge.4_Missense_Mutation_p.L86Q|MTX3_uc003kgf.1_5'Flank	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN	Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.	147					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AATCCTATTCAGTGCTCCCTT	0.463												
HRH2	3274	broad.mit.edu	37	5	175110351	175110351	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:175110351G>A	uc003mdc.4	+	1	759	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	HRH2_uc003mdd.2_Missense_Mutation_p.V39I	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	39					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CAATGTGGTCGTCTGTCTGGC	0.582												
KIAA0319	9856	broad.mit.edu	37	6	24556864	24556864	+	Missense_Mutation	SNP	C	C	T	rs137950263		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:24556864C>T	uc011djo.2	-	17	3328	c.2828G>A	c.(2827-2829)cGt>cAt	p.R943H	KIAA0319_uc011djp.2_Missense_Mutation_p.R898H|KIAA0319_uc003neh.1_Missense_Mutation_p.R943H|KIAA0319_uc011djq.1_Missense_Mutation_p.R934H|KIAA0319_uc011djr.1_Missense_Mutation_p.R943H|KIAA0319_uc010jpt.1_Missense_Mutation_p.R354H	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	943					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.R943C(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCAGATATAACGCTGTATAAG	0.488												
SLC39A7	7922	broad.mit.edu	37	6	33170112	33170112	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:33170112T>C	uc003odf.3	+	4	824	c.707T>C	c.(706-708)tTt>tCt	p.F236S	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.F236S|SLC39A7_uc011dqv.2_Missense_Mutation_p.F111S|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	236						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTGGAGAAATTTGTGAGACAT	0.507												
EPHA7	2045	broad.mit.edu	37	6	94120845	94120845	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:94120845C>T	uc003poe.3	-	2	447	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	EPHA7_uc003pof.3_Missense_Mutation_p.R69Q|EPHA7_uc011eac.2_Missense_Mutation_p.R69Q|EPHA7_uc003pog.4_Missense_Mutation_p.R69Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	69						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R69Q(2)|p.R69*(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTGGTATGTTCGTATCGGGGT	0.393												
SHPRH	257218	broad.mit.edu	37	6	146269445	146269445	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:146269445C>T	uc003qlf.3	-	4	1423	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SHPRH_uc003qle.3_Missense_Mutation_p.E342K|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.E231K	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	342	Helicase ATP-binding; first part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCAGACCCTCAGATGTAACA	0.308												
ELMO1	9844	broad.mit.edu	37	7	37251095	37251095	+	Missense_Mutation	SNP	G	G	C			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:37251095G>C	uc022abv.1	-	12	1692	c.982C>G	c.(982-984)Cga>Gga	p.R328G	ELMO1_uc011kbc.2_Missense_Mutation_p.R232G|ELMO1_uc003tfk.2_Missense_Mutation_p.R328G|ELMO1_uc010kxg.2_Missense_Mutation_p.R328G	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	328	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCAATTCTTCGAAGTTCAAAT	0.428												
EGFR	1956	broad.mit.edu	37	7	55233109	55233109	+	Missense_Mutation	SNP	G	G	A	rs150899403		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:55233109G>A	uc003tqk.3	+	14	2105	c.1859G>A	c.(1858-1860)tGc>tAc	p.C620Y	EGFR_uc003tqi.3_Missense_Mutation_p.C620Y|EGFR_uc003tqj.3_Missense_Mutation_p.C620Y|EGFR_uc022adm.1_Missense_Mutation_p.C620Y|EGFR_uc010kzg.2_Missense_Mutation_p.C575Y|EGFR_uc022adn.1_Missense_Mutation_p.C575Y|EGFR_uc011kco.2_Missense_Mutation_p.C567Y|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	620					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C620Y(2)|p.C620W(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCACCTGTGCCATCCAAAC	0.542		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
ZNF680	340252	broad.mit.edu	37	7	64004766	64004766	+	Silent	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:64004766C>T	uc003tta.2	-	1	248	c.75G>A	c.(73-75)gaG>gaA	p.E25E	ZNF680_uc003ttb.2_Silent_p.E25E	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E25D(2)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				ATTGCCACTCCTCCAGAGAGA	0.423												
AUTS2	26053	broad.mit.edu	37	7	70255710	70255710	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:70255710G>A	uc003tvw.4	+	18	4243	c.3508G>A	c.(3508-3510)Gtg>Atg	p.V1170M	AUTS2_uc003tvx.4_Missense_Mutation_p.V1146M|AUTS2_uc011keg.2_Missense_Mutation_p.V622M	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1170	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCTCCACTCCGTGCACCCCGC	0.697												
MUC17	140453	broad.mit.edu	37	7	100677039	100677039	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:100677039C>T	uc003uxp.1	+	2	2395	c.2342C>T	c.(2341-2343)tCt>tTt	p.S781F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	781	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATCACCACTTCTACTGAAGCC	0.458												
SLC26A3	1811	broad.mit.edu	37	7	107431527	107431527	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:107431527G>A	uc003ver.2	-	4	747	c.536C>T	c.(535-537)gCg>gTg	p.A179V	SLC26A3_uc003ves.2_Missense_Mutation_p.A144V	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	179					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GACTGATGCCGCCGCCGCCAC	0.483												
AASS	10157	broad.mit.edu	37	7	121717919	121717920	+	Frame_Shift_Ins	INS	-	-	G	rs147476318	by1000genomes	TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:121717919_121717920insG	uc003vka.3	-	21	2730_2731	c.2634_2635insC	c.(2632-2637)accgccfs	p.T878fs	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Frame_Shift_Ins_p.T878fs|AASS_uc011knw.2_Frame_Shift_Ins_p.T366fs	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	878	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.P877P(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCTGCCATGGCGGTGGGTAACC	0.460												
POTEA	340441	broad.mit.edu	37	8	43147808	43147808	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr8:43147808G>A	uc003xpz.1	+	0	224	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	POTEA_uc003xqa.1_Missense_Mutation_p.V61I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	61										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAGGTATCACGTCCGTCGAGA	0.602												
UBR5	51366	broad.mit.edu	37	8	103282370	103282370	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr8:103282370C>A	uc003ykr.2	-	49	7582	c.7127G>T	c.(7126-7128)aGa>aTa	p.R2376I	UBR5_uc003yks.2_Missense_Mutation_p.R2376I|UBR5_uc003ykq.3_5'Flank	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2376					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGAGGCTGGTCTAAAGGGCCT	0.438												
KIAA0020	9933	broad.mit.edu	37	9	2811564	2811564	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr9:2811564G>A	uc003zhp.1	-	14	1528	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	KIAA0020_uc003zhq.1_Missense_Mutation_p.R477C	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	478	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCCCGTCTGCGGACCTCTGTA	0.433												
KIF27	55582	broad.mit.edu	37	9	86482718	86482718	+	Missense_Mutation	SNP	G	G	A	rs3199677	by1000genomes	TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr9:86482718G>A	uc004ana.3	-	12	2959	c.2815C>T	c.(2815-2817)Cgc>Tgc	p.R939C	KIF27_uc010mpw.3_Missense_Mutation_p.R873C|KIF27_uc010mpx.3_Intron	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	939					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R939C(2)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AATTCTTGGCGTTGGTTCAGA	0.373												
KLHL13	90293	broad.mit.edu	37	X	117035907	117035907	+	Missense_Mutation	SNP	T	T	C	rs148032932		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chrX:117035907T>C	uc011mtp.2	-	6	1511	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	KLHL13_uc004eqk.3_Missense_Mutation_p.T406A|KLHL13_uc004eql.3_Missense_Mutation_p.T457A|KLHL13_uc011mtn.2_Missense_Mutation_p.T297A|KLHL13_uc011mto.2_Missense_Mutation_p.T451A|KLHL13_uc011mtq.2_Missense_Mutation_p.T441A|KLHL13_uc004eqm.3_Missense_Mutation_p.T415A|KLHL13_uc022cde.1_Missense_Mutation_p.T441A	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	457					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CATTCTACTGTGGCTGTTAAA	0.323												
