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
ATM	472	broad.mit.edu	37	11	108235812	108235812	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:108235812C>T	uc001pkb.1	+	61	9239	c.8854C>T	c.(8854-8856)Ctt>Ttt	p.L2952F	ATM_uc009yxr.1_Missense_Mutation_p.L2952F|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.L1604F	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2952	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.L2952F(3)|p.V2951F(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTTTAGGTCCTTCTATATGA	0.368000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			4	102					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463752	104463752	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chrX:104463752C>T	uc004ema.3	-	3	1230	c.1118G>A	c.(1117-1119)cGc>cAc	p.R373H	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_3'UTR	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	375						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCTGGCCTGCGATATACTGG	0.542000													6	197					0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164789324	164789324	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:164789324T>G	uc001gct.3	+	6	1476	c.1013T>G	c.(1012-1014)tTt>tGt	p.F338C	PBX1_uc010pku.2_Missense_Mutation_p.F338C|PBX1_uc001gcs.3_Intron|PBX1_uc010pkv.2_Missense_Mutation_p.F255C|PBX1_uc010pkw.1_Missense_Mutation_p.F228C	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	338					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	p.F338C(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TCCAGTTCTTTTAACATGTCA	0.473000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								20	131					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149884960	149884960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:149884960G>A	uc001etg.3	-	1	924	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SV2A_uc001eth.2_Nonsense_Mutation_p.R145*	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	145					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.R145*(2)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGTTCTTCTCGTTCTTTCCGT	0.637000													35	62					0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30903561	30903561	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr18:30903561C>T	uc010xbr.1	-	9	1058	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	C18orf34_uc002kxn.2_Missense_Mutation_p.E306K|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.E306K|C18orf34_uc002kxp.3_Missense_Mutation_p.E306K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	306								p.E306K(3)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						AAAGCTTCTTCAAGTTCTTCA	0.308000													9	47					0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	908175	908175	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr5:908175G>A	uc003jbr.3	+	7	890	c.745G>A	c.(745-747)Gtg>Atg	p.V249M	TRIP13_uc010ite.2_Missense_Mutation_p.V249M	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	249					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	p.V249M(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CCTGGTGTTCGTGCTGATTGA	0.453000													58	193					0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139262118	139262118	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:139262118T>C	uc022bpp.1	-	7	1406	c.1240A>G	c.(1240-1242)Agg>Ggg	p.R414G	CARD9_uc004chg.3_Missense_Mutation_p.R414G|CARD9_uc022bpo.1_Missense_Mutation_p.R414G|CARD9_uc011mdx.1_Missense_Mutation_p.R310G	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	414					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	p.R414G(2)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGCTGCCGCCTGAGCCTGCCC	0.721000													2	12					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524058	51524058	+	Silent	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:51524058G>A	uc003pah.1	-	60	11142	c.10866C>T	c.(10864-10866)tgC>tgT	p.C3622C		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3622			C -> Y (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.C3622C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCACAGTAGGGCAATTGCGCT	0.458000													62	151					0	0	1	0	0
KIAA1704	55425	broad.mit.edu	37	13	45594565	45594565	+	Splice_Site	SNP	T	T	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr13:45594565T>A	uc001uzq.3	+	7	907	c.804_splice	c.e7+2	p.N268_splice	KIAA1704_uc001uzr.1_Splice_Site_p.N268_splice|KIAA1704_uc001uzs.3_Splice_Site_p.N145_splice|KIAA1704_uc001uzt.3_Splice_Site_p.N119_splice	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	Homo sapiens KIAA1704 (KIAA1704), mRNA.	268								p.?(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		TCATACAATGTAAGTAAGAAA	0.418000													5	91					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77448965	77448965	+	Silent	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:77448965T>C	uc004ajl.1	-	5	856	c.618A>G	c.(616-618)ggA>ggG	p.G206G	TRPM6_uc004ajk.1_Silent_p.G201G|TRPM6_uc022bib.1_Silent_p.G201G|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.G206G|TRPM6_uc010mpd.1_Silent_p.G206G|TRPM6_uc010mpe.1_Silent_p.G206G|TRPM6_uc004ajn.1_Silent_p.G206G	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	206					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G206G(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGGAGGGATTCCAACTGTCC	0.418000													60	122					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990961	39990961	+	Silent	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr20:39990961G>A	uc002xjy.1	-	3	1472	c.1248C>T	c.(1246-1248)gcC>gcT	p.A416A		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	416						proteinaceous extracellular matrix		p.A416A(2)|p.P415L(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCTCATCCCCGGCCGGGGCAC	0.642000													49	93					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93606305	93606305	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:93606305G>A	uc004aqz.3	+	1	330	c.125G>A	c.(124-126)cGc>cAc	p.R42H	SYK_uc004ara.3_Missense_Mutation_p.R42H|SYK_uc004arb.3_Missense_Mutation_p.R42H|SYK_uc004arc.3_Missense_Mutation_p.R42H|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	42	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.R42H(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TATTTGCTGCGCCAGAGCCGC	0.617000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								6	13					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47036899	47036899	+	Silent	SNP	A	A	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:47036899A>G	uc003cqp.3	+	12	1853	c.1674A>G	c.(1672-1674)gcA>gcG	p.A558A	NBEAL2_uc003cqq.1_Silent_p.A524A|NBEAL2_uc010hjm.2_Silent_p.A119A	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	558							binding	p.A119A(1)|p.A558A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCGACACGCAGGTGCTGTCA	0.632000													17	35					0	0	1	0	0
CCDC121	79635	broad.mit.edu	37	2	27850011	27850011	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:27850011G>T	uc002rld.3	-	1	1257	c.1142C>A	c.(1141-1143)aCt>aAt	p.T381N	ZNF512_uc010yly.1_Intron|CCDC121_uc002rle.3_Missense_Mutation_p.T219N|CCDC121_uc021vfe.1_Missense_Mutation_p.T219N|GPN1_uc010ezf.3_5'Flank|GPN1_uc010yma.2_5'Flank|GPN1_uc010ymb.2_5'Flank|GPN1_uc010ymd.2_5'Flank|GPN1_uc010ymc.2_5'Flank|GPN1_uc010ezg.1_5'Flank	NM_001142683	NP_078860	Q6ZUS5	CC121_HUMAN	Homo sapiens coiled-coil domain containing 121 (CCDC121), transcript variant 2, mRNA.	219								p.T219N(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GTGGCTTTGAGTAGCCGTTAG	0.463000													5	71					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509965	106509965	+	Silent	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:106509965C>T	uc003vdv.4	+	1	2044	c.1959C>T	c.(1957-1959)gaC>gaT	p.D653D	PIK3CG_uc003vdu.3_Silent_p.D653D|PIK3CG_uc003vdw.3_Silent_p.D653D	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	653					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.D653D(3)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						gcttggaggacgatgatgttc	0.443000													22	58					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65021047	65021047	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr17:65021047G>A	uc002jft.2	+	2	424	c.376G>A	c.(376-378)Ggt>Agt	p.G126S		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	126					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.G126S(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCTGTGCATCGGTGCTGGCAG	0.672000													80	88					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			32	31					0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19625913	19625913	+	Silent	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:19625913G>T	uc002nmr.3	-	0	557	c.324C>A	c.(322-324)ccC>ccA	p.P108P	TSSK6_uc002nmq.3_Non-coding_Transcript|YJEFN3_uc021uqu.1_5'Flank|YJEFN3_uc021uqv.1_5'Flank|YJEFN3_uc021uqw.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	Homo sapiens testis-specific serine kinase 6 (TSSK6), mRNA.	108	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P108P(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CCTGAACTCCGGGGATGCGCC	0.637000													3	83					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154860109	154860109	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:154860109C>A	uc010hvr.1	+	11	1389	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	MME_uc003fab.1_Missense_Mutation_p.A393D|MME_uc003fac.1_Missense_Mutation_p.A393D|MME_uc003fad.1_Missense_Mutation_p.A393D|MME_uc003fae.1_Missense_Mutation_p.A393D	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	393					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A393D(2)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TCCAGAAATGCTTTCCGCAAG	0.378000													10	166					0	0	1	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85056021	85056021	+	RNA	SNP	T	T	C	rs1062001		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr15:85056021T>C	uc002bkm.2	-	5		c.539A>G								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		GTAGCTGCTCTACCTTAGATG	0.502000													2	16					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95310851	95310851	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:95310851G>T	uc001dqv.4	+	8	1010	c.903G>T	c.(901-903)ttG>ttT	p.L301F	SLC44A3_uc001dqx.4_Missense_Mutation_p.L301F|SLC44A3_uc010otq.2_Missense_Mutation_p.L233F|SLC44A3_uc010otr.2_Missense_Mutation_p.L265F|SLC44A3_uc001dqw.4_Missense_Mutation_p.L253F|SLC44A3_uc010ots.2_Missense_Mutation_p.L221F|SLC44A3_uc009wds.3_Missense_Mutation_p.L204F|SLC44A3_uc010ott.2_Missense_Mutation_p.L221F|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	301						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.L301F(1)|p.L253F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TGCTCGTCTTGATTTTTGTTC	0.408000													67	142					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106829780	106829780	+	RNA	SNP	G	G	A	rs11546809		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr14:106829780G>A	uc021ser.1	-	518		c.15123C>T			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GGCGGATCCAGCTCCAGTAGT	0.582000													4	60					0	0	1	0	0
SPAG8	26206	broad.mit.edu	37	9	35811495	35811495	+	Missense_Mutation	SNP	G	G	C	rs59748329		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:35811495G>C	uc003zye.3	-	1	663	c.548C>G	c.(547-549)tCt>tGt	p.S183C	SPAG8_uc003zyg.3_Missense_Mutation_p.S183C	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	183	Gly-rich.					acrosomal vesicle|membrane		p.S183C(3)|p.S183_G186delSGPG(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			accaggaccagagccaggacc	0.647000													21	16					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38048106	38048106	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:38048106C>T	uc003chj.3	+	18	2658	c.2372C>T	c.(2371-2373)aCg>aTg	p.T791M	VILL_uc003chl.3_Missense_Mutation_p.T791M	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	791	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.T791M(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACCAGCGCCACGATCAACGGG	0.667000													25	52					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455565	187455565	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr4:187455565C>T	uc003izd.1	-	1	349	c.331G>A	c.(331-333)Gtc>Atc	p.V111I		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	111					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity	p.V111I(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GAGCCGATGACGCTCAGGCCC	0.517000													15	92					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930258	31930258	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:31930258G>C	uc003nyn.1	+	10	1496	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	SKIV2L_uc011dou.1_Missense_Mutation_p.K211N|SKIV2L_uc011dov.1_Missense_Mutation_p.K176N	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	369	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding	p.K369N(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCAACCAGAAGTTCCGGGACT	0.587000													48	93					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62813870	62813870	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr4:62813870G>A	uc010ihh.3	+	13	2650	c.2477G>A	c.(2476-2478)cGt>cAt	p.R826H	LPHN3_uc003hcq.4_Missense_Mutation_p.R826H|LPHN3_uc003hct.3_Missense_Mutation_p.R219H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	813	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R826H(4)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTCCAAGCGTACAATGACA	0.383000													27	51					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688423	26688423	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:26688423C>A	uc003acb.3	+	1	342	c.146C>A	c.(145-147)tCa>tAa	p.S49*	SEZ6L_uc003acd.3_Nonsense_Mutation_p.S49*|SEZ6L_uc011akd.2_Nonsense_Mutation_p.S49*|SEZ6L_uc003ace.3_Nonsense_Mutation_p.S49*|SEZ6L_uc011akc.2_Nonsense_Mutation_p.S49*|SEZ6L_uc003acc.3_Nonsense_Mutation_p.S49*|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	49						endoplasmic reticulum membrane|integral to membrane		p.S49*(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCCTGCCCTCAGGAGCCCCG	0.582000													31	66					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681278	55681278	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:55681278G>A	uc010rir.2	-	0	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261W(4)|p.R261Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAACTTGGCCGGAAATACATA	0.443000													50	93					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72827588	72827588	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr16:72827588C>T	uc002fck.3	-	8	9666	c.8993G>A	c.(8992-8994)cGg>cAg	p.R2998Q	ZFHX3_uc002fcl.3_Missense_Mutation_p.R2084Q	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2998					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R2998Q(2)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCTTTTGCCCGGGCATTCTG	0.463000													51	220					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102067275	102067275	+	Missense_Mutation	SNP	G	G	A	rs151310085		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr12:102067275G>A	uc001tii.3	+	23	2803	c.2663G>A	c.(2662-2664)cGc>cAc	p.R888H	MYBPC1_uc001tig.3_Missense_Mutation_p.R895H|MYBPC1_uc010svr.2_Missense_Mutation_p.R870H|MYBPC1_uc010svs.2_Missense_Mutation_p.R888H|MYBPC1_uc001tij.3_Missense_Mutation_p.R870H|MYBPC1_uc010svt.2_Missense_Mutation_p.R858H|MYBPC1_uc010svu.2_Missense_Mutation_p.R851H|MYBPC1_uc001tik.3_Missense_Mutation_p.R844H|MYBPC1_uc001tih.3_Missense_Mutation_p.R895H|MYBPC1_uc010svq.2_Missense_Mutation_p.R857H|MYBPC1_uc001til.3_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	888	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.R895H(1)|p.R888H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATAAACATTCGCAACTCTGAG	0.383000													49	385					0	0	1	0	0
DUSP18	150290	broad.mit.edu	37	22	31059967	31059967	+	Silent	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:31059967G>A	uc003aiu.3	-	1	525	c.24C>T	c.(22-24)ttC>ttT	p.F8F	SLC35E4_uc003ait.3_Intron|DUSP18_uc010gwa.2_Non-coding_Transcript|DUSP18_uc003aiw.1_Silent_p.F8F|DUSP18_uc021wnv.1_Silent_p.F8F	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	Homo sapiens dual specificity phosphatase 18 (DUSP18), mRNA.	8						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.F8F(3)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ACTGAACTGGGAAGGCACACG	0.562000													16	36					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97369281	97369281	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:97369281G>A	uc010fia.3	+	49	5821	c.5821G>A	c.(5821-5823)Gag>Aag	p.E1941K	FER1L5_uc002sws.4_Missense_Mutation_p.E650K|FER1L5_uc010yus.2_Missense_Mutation_p.E649K	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN	Homo sapiens fer-1-like 5 (C. elegans) (FER1L5), mRNA.	1941						integral to membrane		p.E1941K(2)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GATGAGCCTGGAGATTCTGTC	0.577000													7	57					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604528	140604528	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr5:140604528C>A	uc003ljb.3	+	0	1451	c.1451C>A	c.(1450-1452)gCc>gAc	p.A484D		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	484	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A484D(2)|p.A484T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCACCAACGCCCAGGTCAAC	0.642000													4	122					0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43626994	43626994	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:43626994A>G	uc011lrb.2	-	3	1722	c.1693T>C	c.(1693-1695)Ttt>Ctt	p.F565L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	565						integral to membrane		p.F565L(2)		breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GAGACACTAAAGACGTCCTGA	0.488000													6	285					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111726773	111726773	+	Silent	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:111726773C>T	uc003puy.4	-	3	806	c.465G>A	c.(463-465)gcG>gcA	p.A155A	REV3L_uc003pux.4_Silent_p.A77A|REV3L_uc003puz.4_Silent_p.A77A	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	155					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.A77A(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGGGAATATGCGCTTCATGAG	0.338000								DNA polymerases (catalytic subunits)					6	343					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132061380	132061380	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:132061380G>A	uc003qcu.4	+	24	2664	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	ENPP3_uc003qcv.3_Missense_Mutation_p.D773N|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	773	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.D773N(2)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AGCCAACACTGATGTTCCCAT	0.388000													3	125					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55521821	55521821	+	Silent	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:55521821C>A	uc001cyf.2	+	5	1317	c.955C>A	c.(955-957)Cgg>Agg	p.R319R	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	319	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.R319R(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CGGCAACTTCCGGGACGATGC	0.741000													2	5					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167304172	167304172	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:167304172G>T	uc002udu.2	-	10	1467	c.1337C>A	c.(1336-1338)aCa>aAa	p.T446K	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	446					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T446K(4)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGATGTGTCTGTGGAAATTGG	0.378000													45	149					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70228041	70228041	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:70228041C>A	uc003tvw.4	+	6	1663	c.928C>A	c.(928-930)Cag>Aag	p.Q310K	AUTS2_uc003tvx.4_Missense_Mutation_p.Q310K	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	310								p.Q310K(2)		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)		ACCCCAGCCGCAGACGGAGCC	0.607000													3	38					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640708	57640708	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:57640708T>C	uc002qny.3	+	3	1021	c.665T>C	c.(664-666)tTg>tCg	p.L222S	USP29_uc021vci.1_Missense_Mutation_p.L222S	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	222					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L222S(2)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATAGAGATTTGAAACTCGGG	0.363000													55	139					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62688039	62688039	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr12:62688039G>A	uc001src.2	+	1	244	c.169G>A	c.(169-171)Gat>Aat	p.D57N	USP15_uc001srb.2_Missense_Mutation_p.D57N|USP15_uc010ssj.2_Missense_Mutation_p.D57N|USP15_uc010ssk.2_Missense_Mutation_p.D57N|USP15_uc001sra.3_Missense_Mutation_p.D57N	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	57	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D57N(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CCAGATGGGAGATCAAAATGT	0.353000													57	125					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51347719	51347719	+	Silent	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:51347719C>T	uc011bds.2	+	27	3002	c.2979C>T	c.(2977-2979)ttC>ttT	p.F993F		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	993						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.F993F(2)|p.F982F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAGTGTCTTCCCTCGGGACT	0.463000													8	12					0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70801756	70801756	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:70801756T>C	uc001dex.4	-	1	783	c.457A>G	c.(457-459)Atg>Gtg	p.M153V	ANKRD13C_uc009wbk.3_Missense_Mutation_p.M153V	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	153					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	p.M153V(2)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TTTCCTAACATCACAGCAAGG	0.219000													4	18					0	0	1	0	0
KLC1	3831	broad.mit.edu	37	14	104124043	104124043	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr14:104124043T>C	uc001yno.3	+	2	730	c.422T>C	c.(421-423)cTg>cCg	p.L141P	KLC1_uc010tyd.1_Missense_Mutation_p.L300P|KLC1_uc010tye.1_Missense_Mutation_p.L137P|KLC1_uc001ynm.1_Missense_Mutation_p.L141P|KLC1_uc010tyf.2_Missense_Mutation_p.L141P	NM_182923	NP_891553	Q07866	KLC1_HUMAN	Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA.	141					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.L141P(2)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GTGGCTCAACTGGAGGAGGAG	0.502000													3	77					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238259791	238259791	+	Silent	SNP	G	G	T	rs116541926	by1000genomes	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:238259791G>T	uc002vwl.2	-	26	7083	c.6798C>A	c.(6796-6798)acC>acA	p.T2266T	COL6A3_uc002vwo.2_Silent_p.T2060T|COL6A3_uc010znj.1_Silent_p.T1659T|COL6A3_uc002vwp.1_Silent_p.T87T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2266	Collagen-like 4.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.T2266T(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCAGTGGACCGGTTCTGCCTC	0.577000													3	118					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110960	55110960	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:55110960G>T	uc010rie.2	+	0	284	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95F(2)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGTCAGCTTGCATGGGTCAG	0.453000													10	551					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:8449746G>A	uc003zkk.3	-	33	4710	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_uc003zkp.3_Missense_Mutation_p.R917C|PTPRD_uc003zkq.3_Missense_Mutation_p.R916C|PTPRD_uc003zkr.3_Missense_Mutation_p.R907C|PTPRD_uc003zks.3_Missense_Mutation_p.R902C|PTPRD_uc022bdj.1_Missense_Mutation_p.R913C	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1323					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1323C(2)|p.R794C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463000										TSP Lung(15;0.13)			7	291					0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64802432	64802432	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:64802432C>T	uc001oci.4	+	6	1024	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	SNX15_uc001ock.3_Missense_Mutation_p.R124W	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	124	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	p.R124W(2)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGTTCTTCCGGGTATGTGC	0.582000													27	65					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52942423	52942423	+	Missense_Mutation	SNP	T	T	A	rs112113280		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:52942423T>A	uc002pzk.3	+	3	1816	c.1749T>A	c.(1747-1749)aaT>aaA	p.N583K	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.N570K	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N583K(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GACATAGGAATATTCATACTG	0.438000													3	23					0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57957991	57957991	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:57957991C>T	uc010rka.2	+	0	86	c.29C>T	c.(28-30)aCg>aTg	p.T10M		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T10M(2)|p.T10T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				ACCGTAGTGACGGAGTTCTTC	0.463000													12	156					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469876	21469876	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:21469876C>G	uc003sva.3	+	2	1274	c.1093C>G	c.(1093-1095)Cct>Gct	p.P365A	SP4_uc003svb.3_Missense_Mutation_p.P52A	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	365					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.P365A(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTCAAACACCTGCTGCTAC	0.468000													8	144					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128608926	128608926	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr4:128608926C>A	uc003ifk.2	+	7	1456	c.1353C>A	c.(1351-1353)agC>agA	p.S451R	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	451								p.S451R(2)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGCATTCCAGCGCCAGTCCCA	0.478000													4	176					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61557835	61557835	+	Missense_Mutation	SNP	C	C	G	rs138873311	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr17:61557835C>G	uc002jau.2	+	4	827	c.793C>G	c.(793-795)Cga>Gga	p.R265G	ACE_uc010wpi.2_Missense_Mutation_p.R265G|ACE_uc010ddu.2_Missense_Mutation_p.R82G	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	265	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.R265G(2)|p.R265Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACTGCATCGCCGATACGGAGA	0.602000													65	96					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42262830	42262830	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:42262830G>C	uc011kbh.2	-	1	114	c.23C>G	c.(22-24)tCc>tGc	p.S8C		NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	8					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S8C(3)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGTGGTCGTGGAGCTGTGGGA	0.453000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				11	161					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30661990	30661992	+	In_Frame_Del	DEL	AAG	-	-			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:30661990_30661992delAAG	uc003tbm.3	+	11	1882_1884	c.1525_1527delAAG	c.(1525-1527)aagdel	p.K510del		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	510					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TAAGGCATATAAGAAGGATGCAA	0.404													8	322	---	---	---	---					
MYEOV	26579	broad.mit.edu	37	11	69063421	69063425	+	Frame_Shift_Del	DEL	CTTTA	-	-			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:69063421_69063425delCTTTA	uc001oov.3	+	2	954_958	c.504_508delCTTTA	c.(502-510)gcctttagafs	p.A168fs	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Frame_Shift_Del_p.A168fs|MYEOV_uc001oow.3_Frame_Shift_Del_p.A110fs	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	168										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGGGAGAAGCCTTTAGAGTGGGCGT	0.585													90	356	---	---	---	---					
PPP5C	5536	broad.mit.edu	37	19	46850390	46850400	+	Frame_Shift_Del	DEL	GAGCCCCCCCG	-	-	rs150667064	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:46850390_46850400delGAGCCCCCCCG	uc002pem.3	+	0	140_150	c.37_47delGAGCCCCCCCG	c.(37-48)gagcccccccggfs	p.E13fs	PPP5C_uc002pen.3_Frame_Shift_Del_p.E13fs|PPP5C_uc010xya.2_5'UTR	NM_006247	NP_006238	P53041	PPP5_HUMAN	Homo sapiens protein phosphatase 5, catalytic subunit (PPP5C), transcript variant 1, mRNA.	13					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	p.R16fs*7(2)|p.P14H(2)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGAGTGTGCTGAGCCCCCCCGGGACGAACCC	0.687											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9	---	---	---	---					
