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
LEPRE1	64175	broad.mit.edu	37	1	43215947	43215947	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:43215947T>C	uc001chx.4	-	10	1743	c.1630A>G	c.(1630-1632)Aag>Gag	p.K544E	LEPRE1_uc001chw.2_Missense_Mutation_p.K544E|LEPRE1_uc001chv.2_Missense_Mutation_p.K544E	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	544					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGCCGCACCTTCTCCGTCACG	0.577												
NEXN	91624	broad.mit.edu	37	1	78401572	78401572	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:78401572G>T	uc001dic.4	+	10	1613	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M	NEXN_uc001dia.3_Missense_Mutation_p.R425M|NEXN_uc009wcb.1_Missense_Mutation_p.R361M|NEXN_uc001dib.4_Missense_Mutation_p.R375M|NEXN_uc001did.1_Missense_Mutation_p.R349M|NEXN_uc001dif.1_Missense_Mutation_p.R331M|NEXN_uc001dig.4_Missense_Mutation_p.R80M	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	439	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAAAAAGGAGTGGCTCT	0.313												
LPAR3	23566	broad.mit.edu	37	1	85331314	85331314	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:85331314T>C	uc001dkl.2	-	0	529	c.490A>G	c.(490-492)Aca>Gca	p.T164A	LPAR3_uc009wcj.1_Missense_Mutation_p.T164A	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	164					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGCCCAGTGTGGGGACCGCC	0.527												
TDRD10	126668	broad.mit.edu	37	1	154493902	154493902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:154493902delA	uc009wow.3	+	5	1154	c.316delA	c.(316-318)aaafs	p.K106fs	TDRD10_uc001ffd.3_Frame_Shift_Del_p.K106fs|TDRD10_uc001ffe.3_Frame_Shift_Del_p.K27fs	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	106	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAATACAAGCAAAAGGCCCCC	0.517												
SLC39A12	221074	broad.mit.edu	37	10	18276538	18276538	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:18276538C>T	uc001ipo.2	+	6	1500	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	SLC39A12_uc001ipn.2_Silent_p.V409V|SLC39A12_uc001ipp.2_Silent_p.V409V|SLC39A12_uc010qck.1_Silent_p.V275V	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	409					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.A408A(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCTTGGCCGTCGGGACACTGT	0.502												
C10orf140	387640	broad.mit.edu	37	10	21805467	21805469	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:21805467_21805469delCCT	uc009xkd.3	-	3	3536_3538	c.1283_1285delAGG	c.(1282-1287)gagggg>ggg	p.E428del	AK055656_uc001iqp.1_Non-coding_Transcript|C10orf140_uc021pnx.1_In_Frame_Del_p.E428del	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	347						nucleus	nucleotide binding	p.E428_G429insEE(3)		kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						CCGCTGCccccctcctcctcctc	0.616												
SVIL	6840	broad.mit.edu	37	10	29784039	29784039	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:29784039C>T	uc001iut.1	-	18	4489	c.3736G>A	c.(3736-3738)Gtt>Att	p.V1246I	SVIL_uc010qdw.1_Missense_Mutation_p.V160I|SVIL_uc001iuu.1_Missense_Mutation_p.V820I|SVIL_uc009xlc.2_Missense_Mutation_p.V38I	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1246					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGTTTGGAAACGGGTGTGGTG	0.552												
PTEN	5728	broad.mit.edu	37	10	89692778	89692778	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:89692778T>C	uc001kfb.3	+	4	1294	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	88	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Y88C(9)|p.?(5)|p.R55fs*1(5)|p.Y88N(2)|p.Y27fs*1(2)|p.Y88H(2)|p.Y88fs*3(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.Y88S(1)|p.F56fs*2(1)|p.Q87*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTGCACAATATCCTTTTGA	0.338		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
OR52E8	390079	broad.mit.edu	37	11	5878741	5878741	+	Silent	SNP	A	A	G	rs147064631		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:5878741A>G	uc010qzr.2	-	0	192	c.192T>C	c.(190-192)ccT>ccC	p.P64P	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGTACATAGGCTCATGGA	0.458												
OR52E8	390079	broad.mit.edu	37	11	5878765	5878765	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:5878765C>T	uc010qzr.2	-	0	168	c.168G>A	c.(166-168)caG>caA	p.Q56Q	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCTCAGTCTGGATCACAA	0.483												
DCDC5	100506627	broad.mit.edu	37	11	30974095	30974095	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:30974095C>T	uc009yjk.1	-	8	1025	c.956G>A	c.(955-957)gGa>gAa	p.G319E	DCDC5_uc021qfk.1_5'UTR|DCDC5_uc009yjl.1_Intron|DCDC5_uc001msu.2_Missense_Mutation_p.G490E	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CTTACTGGTTCCTTCATGTTT	0.353												
SYT12	91683	broad.mit.edu	37	11	66797643	66797643	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:66797643C>A	uc009yrl.3	+	1	258	c.28C>A	c.(28-30)Ctg>Atg	p.L10M	SYT12_uc001oju.3_Missense_Mutation_p.L10M	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	10						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						AGAATACCATCTGAGCGGTGA	0.567												
KDM5A	5927	broad.mit.edu	37	12	416979	416979	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:416979G>A	uc001qif.1	-	22	3934	c.3571C>T	c.(3571-3573)Ctt>Ttt	p.L1191F		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1191					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1190S(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GATTTAGGAAGAGGAACACAG	0.443			T	NUP98	AML							
TNFRSF1A	7132	broad.mit.edu	37	12	6442637	6442637	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:6442637G>T	uc001qnu.3	-	3	671	c.368C>A	c.(367-369)aCc>aAc	p.T123N	TNFRSF1A_uc001qnt.3_Missense_Mutation_p.T15N|TNFRSF1A_uc010sey.2_Intron|TNFRSF1A_uc010sez.2_Missense_Mutation_p.T15N|TNFRSF1A_uc009zek.3_Missense_Mutation_p.T80N|TNFRSF1A_uc010sfa.2_Missense_Mutation_p.T123N	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	123					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GCCACACACGGTGTCCCGGTC	0.552												
ART4	420	broad.mit.edu	37	12	14993552	14993552	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:14993552G>A	uc001rcl.1	-	1	1046	c.680C>T	c.(679-681)aCc>aTc	p.T227I	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.T227I	NM_021071	NP_066549	Q93070	NAR4_HUMAN	Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.	227					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						GGTGAATATGGTAAATAGTGT	0.463												
KRT73	319101	broad.mit.edu	37	12	53011874	53011874	+	Silent	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:53011874G>A	uc001sas.3	-	0	470	c.435C>T	c.(433-435)tcC>tcT	p.S145S		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	145	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTCAATGAAGGAGGCGAACT	0.547												
LRP1	4035	broad.mit.edu	37	12	57581169	57581169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:57581169G>T	uc001snd.3	+	41	7427	c.6961G>T	c.(6961-6963)Gag>Tag	p.E2321*		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2321					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGGGCCTTCGAGCGTGAGAC	0.607												
LRIG3	121227	broad.mit.edu	37	12	59274532	59274532	+	Silent	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:59274532A>G	uc001sqr.3	-	12	1878	c.1632T>C	c.(1630-1632)gcT>gcC	p.A544A	LRIG3_uc009zqh.3_Silent_p.A484A|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	544	Ig-like C2-type 1.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCCATTTCAGCATCATGCA	0.488			T	ROS1	NSCLC							
TPTE2	93492	broad.mit.edu	37	13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:20039688G>A	uc001umd.3	-	8	740	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	177						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313												
MPHOSPH8	54737	broad.mit.edu	37	13	20235946	20235946	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:20235946G>A	uc001umh.3	+	7	2001	c.1900G>A	c.(1900-1902)Ggg>Agg	p.G634R	MPHOSPH8_uc001umg.3_Missense_Mutation_p.G634R	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	634					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GCAGAAGAACGGGACCACCGC	0.552												
NALCN	259232	broad.mit.edu	37	13	101728226	101728226	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:101728226G>A	uc001vox.1	-	34	4141	c.3952C>T	c.(3952-3954)Cat>Tat	p.H1318Y		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1318						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTACTTACATGTTTTCCACAG	0.323												
OR4Q3	441669	broad.mit.edu	37	14	20215929	20215930	+	Missense_Mutation	DNP	TT	TT	AG	rs138558904	byFrequency	TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr14:20215929_20215930TT>AG	uc010tkt.2	+	0	343_344	c.343_344TT>AG	c.(343-345)ttg>AGg	p.L115R		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGATGTTTTTGCTGACAGTC	0.495												
BATF	10538	broad.mit.edu	37	14	76012841	76012841	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr14:76012841C>T	uc001xrr.3	+	2	447	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	69	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CGCGGCTCTACGCAAGGAGAT	0.612												
HEATR3	55027	broad.mit.edu	37	16	50112858	50112858	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:50112858G>C	uc002efw.3	+	6	1132	c.970G>C	c.(970-972)Gat>Cat	p.D324H	HEATR3_uc021thv.1_Missense_Mutation_p.D238H|HEATR3_uc002efx.3_Missense_Mutation_p.D238H	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	324							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGATTGAAGATGATGAAAT	0.368												
SLC12A3	6559	broad.mit.edu	37	16	56904089	56904089	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:56904089C>T	uc002ekd.4	+	4	712	c.683C>T	c.(682-684)gCc>gTc	p.A228V	SLC12A3_uc010ccm.3_Missense_Mutation_p.A228V|SLC12A3_uc010ccn.3_Missense_Mutation_p.A227V	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	228					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCGCCAATGCCGTGGGTGTG	0.662												
ZC3H18	124245	broad.mit.edu	37	16	88688690	88688690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:88688690C>T	uc010voz.2	+	9	1833	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	ZC3H18_uc002fky.3_Nonsense_Mutation_p.R521*|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	521	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding	p.R521*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCTTGGCGCCGATCCAAGTC	0.602												
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
KRT16	3868	broad.mit.edu	37	17	39766792	39766792	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr17:39766792C>T	uc002hxg.4	-	5	1210	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	357	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GGCTGTTCTCCAGGGATGCTT	0.557												
NDC80	10403	broad.mit.edu	37	18	2610820	2610820	+	Missense_Mutation	SNP	G	G	A	rs144795559		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr18:2610820G>A	uc002kli.3	+	15	1933	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	584	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AACTTGCAACGTCTGTTAGAG	0.373												
PCSK4	54760	broad.mit.edu	37	19	1482471	1482471	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:1482471G>A	uc002ltb.1	-	13	1762	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	PCSK4_uc002lsz.2_Missense_Mutation_p.T54M|PCSK4_uc002lta.2_Silent_p.D337D	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	567					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGTACAACGTCCCTGGACA	0.687												
GPATCH1	55094	broad.mit.edu	37	19	33579113	33579113	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:33579113delC	uc002nug.1	+	1	461	c.147delC	c.(145-147)ttcfs	p.F49fs		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	49						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					ATAAACGATTCCACGGGGCCT	0.358												
PSG11	5680	broad.mit.edu	37	19	43523198	43523198	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:43523198C>G	uc002ovm.1	-	2	540	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.E23Q|PSG11_uc002ovo.1_Missense_Mutation_p.E23Q	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	145					female pregnancy	extracellular region		p.E145*(3)|p.L144M(1)|p.L144L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTGGGAGTCTCCACTGTGCAG	0.507												
MAP4K3	8491	broad.mit.edu	37	2	39515367	39515367	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:39515367C>A	uc002rro.3	-	19	1460	c.1369G>T	c.(1369-1371)Gga>Tga	p.G457*	MAP4K3_uc002rrp.3_Nonsense_Mutation_p.G436*|MAP4K3_uc010yns.2_Nonsense_Mutation_p.G10*	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	457					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTGATTGTTCCTTGATTTTCA	0.428												
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809103	48809103	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:48809103G>T	uc002rwp.2	+	1	1445	c.1331G>T	c.(1330-1332)tGc>tTc	p.C444F	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.C444F	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	444					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAATTTATTGCCTCTGCTTT	0.383												
CCDC85A	114800	broad.mit.edu	37	2	56420085	56420085	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:56420085G>C	uc002rzn.3	+	1	1252	c.750G>C	c.(748-750)aaG>aaC	p.K250N	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	250	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCACTCCAAGCACAGGAGCG	0.662												
GLI2	2736	broad.mit.edu	37	2	121726342	121726342	+	Silent	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:121726342G>A	uc010flp.3	+	4	726	c.696G>A	c.(694-696)gcG>gcA	p.A232A	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.A103T|GLI2_uc010flo.1_Silent_p.A107A|GLI2_uc002tmw.1_Silent_p.A232A	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	232					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCAAGCGGGCGCTGTCCATCT	0.632												
ZDBF2	57683	broad.mit.edu	37	2	207173022	207173022	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:207173022C>A	uc002vbp.2	+	4	4020	c.3770C>A	c.(3769-3771)cCt>cAt	p.P1257H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1257							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCTGGCCAACCTGAAGAAGTA	0.383												
PRKAG3	53632	broad.mit.edu	37	2	219691740	219691740	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:219691740G>A	uc002vjb.1	-	9	1098	c.1079C>T	c.(1078-1080)gCt>gTt	p.A360V	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Silent_p.L402L	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	360	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCACAGCCAAGTCTCG	0.602												
PASK	23178	broad.mit.edu	37	2	242065780	242065780	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:242065780C>T	uc002wao.2	-	9	2683	c.2550G>A	c.(2548-2550)acG>acA	p.T850T	PASK_uc010zol.2_Silent_p.T664T|PASK_uc010zom.2_Silent_p.T815T|PASK_uc010fzl.2_Silent_p.T850T|PASK_uc010zon.2_Silent_p.T631T|PASK_uc021vzf.1_Silent_p.T850T|PASK_uc002wap.3_Silent_p.T393T|PASK_uc002waq.3_Silent_p.T850T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	850				T -> M (in Ref. 2; BAA09484).	regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.T850T(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGCATCCAACGTGGAAGGAA	0.587												
CD40	958	broad.mit.edu	37	20	44750990	44750990	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr20:44750990C>T	uc002xrg.1	+	2	326	c.249C>T	c.(247-249)tgC>tgT	p.C83C	CD40_uc002xrf.1_Silent_p.C83C|CD40_uc002xrh.1_Silent_p.C83C|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	83			C -> R (in HIGM3; dbSNP:rs28931586).		B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	p.Y82H(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	ACAAATACTGCGACCCCAGTG	0.527									Immune Deficiency with Hyper-IgM			
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr22:38119882_38119884delCCT	uc003atr.3	+	6	1590_1592	c.1319_1321delCCT	c.(1318-1323)gcctcc>gcc	p.S442del	TRIOBP_uc003atu.3_In_Frame_Del_p.S270del|TRIOBP_uc003atq.1_In_Frame_Del_p.S442del|TRIOBP_uc003ats.1_In_Frame_Del_p.S270del	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	442					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601												
TRIOBP	11078	broad.mit.edu	37	22	38120676	38120676	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr22:38120676G>A	uc003atr.3	+	6	2384	c.2113G>A	c.(2113-2115)Gat>Aat	p.D705N	TRIOBP_uc003atu.3_Missense_Mutation_p.D533N|TRIOBP_uc003atq.1_Missense_Mutation_p.D705N|TRIOBP_uc003ats.1_Missense_Mutation_p.D533N	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	705					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.D705N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCAACGGGACGATCCCAGAGC	0.582												
ALG12	79087	broad.mit.edu	37	22	50307405	50307405	+	Silent	SNP	T	T	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr22:50307405T>C	uc003biy.3	-	1	283	c.9A>G	c.(7-9)ggA>ggG	p.G3G		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	3					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ATGACCCCTTTCCAGCCATTC	0.597												
FBXL2	25827	broad.mit.edu	37	3	33415165	33415165	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:33415165T>G	uc003cfp.3	+	7	622	c.551T>G	c.(550-552)cTg>cGg	p.L184R	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Missense_Mutation_p.L100R|FBXL2_uc021wuy.1_Intron|FBXL2_uc011axo.2_Missense_Mutation_p.L79R|FBXL2_uc011axr.1_Non-coding_Transcript|FBXL2_uc011axq.1_Non-coding_Transcript|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	184					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TGTCGAGGCCTGAAAGCCCTG	0.552												
CSRNP1	64651	broad.mit.edu	37	3	39188146	39188146	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:39188146C>A	uc003cjg.3	-	1	242	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	CSRNP1_uc003cjh.3_Missense_Mutation_p.D10Y	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	10					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TCCAGCTGGTCAAATTTCCTC	0.587												
C3orf15	89876	broad.mit.edu	37	3	119462994	119462994	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:119462994G>A	uc003ede.4	+	13	1930	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	C3orf15_uc010hqz.3_Missense_Mutation_p.R556H|C3orf15_uc011bjd.2_Missense_Mutation_p.R492H|C3orf15_uc011bje.2_Missense_Mutation_p.R598H	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	454						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AGTGGTCGGCGCCAGGTGGAA	0.592												
FAM194A	131831	broad.mit.edu	37	3	150387205	150387205	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:150387205C>T	uc003eyg.3	-	11	1434	c.1377G>A	c.(1375-1377)gtG>gtA	p.V459V	FAM194A_uc003eyh.3_Silent_p.V313V	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	459										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTTGTTGGGCACTCGAATGA	0.418												
ZNF718	152687	broad.mit.edu	37	4	86956	86956	+	Nonsense_Mutation	SNP	C	C	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:86956C>G	uc003fzv.1	+	5	1664	c.1508C>G	c.(1507-1509)tCa>tGa	p.S503*	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Nonsense_Mutation_p.S289*|ZNF718_uc011but.1_Nonsense_Mutation_p.S289*	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AACCAATCCTCAGGCCTTATT	0.393												
KIT	3815	broad.mit.edu	37	4	55561742	55561742	+	Silent	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:55561742A>G	uc010igr.3	+	1	219	c.132A>G	c.(130-132)tcA>tcG	p.S44S	KIT_uc010igs.3_Silent_p.S44S	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	44	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGAAAATCAGACTTAATAG	0.468		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors			
GUCY1A3	2982	broad.mit.edu	37	4	156634553	156634553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:156634553C>T	uc003iov.3	+	7	1926	c.1390C>T	c.(1390-1392)Cag>Tag	p.Q464*	GUCY1A3_uc010iqc.2_Nonsense_Mutation_p.Q464*|GUCY1A3_uc010iqd.3_Nonsense_Mutation_p.Q463*|GUCY1A3_uc003iow.3_Nonsense_Mutation_p.Q464*|GUCY1A3_uc003iox.3_Nonsense_Mutation_p.Q464*|GUCY1A3_uc010iqe.3_Nonsense_Mutation_p.Q229*|GUCY1A3_uc003ioy.3_Nonsense_Mutation_p.Q464*|GUCY1A3_uc003ioz.3_Nonsense_Mutation_p.Q229*|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Nonsense_Mutation_p.Q464*	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	464					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGAGGTTGCTCAGCAGCTGTG	0.522												
NAF1	92345	broad.mit.edu	37	4	164050120	164050120	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:164050120G>A	uc003iqj.3	-	7	1608	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	472	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggagggggagggggtgggggt	0.512												
SLC6A3	6531	broad.mit.edu	37	5	1422074	1422074	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:1422074G>A	uc003jck.3	-	4	835	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	237			R -> Q (in dbSNP:rs6345).		cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCTGCCACCGCGGAGGCCCC	0.657												
NPR3	4883	broad.mit.edu	37	5	32724903	32724903	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:32724903A>G	uc003jhv.3	+	1	1314	c.869A>G	c.(868-870)gAg>gGg	p.E290G	NPR3_uc010iuo.3_Missense_Mutation_p.E74G|NPR3_uc003jhw.2_Missense_Mutation_p.E74G|NPR3_uc003jhu.3_Missense_Mutation_p.E290G	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	290					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCAACATTGAGCTCTTCAAC	0.537												
LYSMD3	116068	broad.mit.edu	37	5	89815175	89815175	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:89815175G>C	uc003kjr.3	-	2	530	c.382C>G	c.(382-384)Cag>Gag	p.Q128E	LYSMD3_uc010jaz.2_Intron|LYSMD3_uc003kjs.1_Missense_Mutation_p.T108R	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.	128					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CGTGAAGTCTGTCTTCCTTTT	0.393												
DTWD2	285605	broad.mit.edu	37	5	118324199	118324199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:118324199G>T	uc003ksa.3	-	0	42	c.8C>A	c.(7-9)tCg>tAg	p.S3*		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	Homo sapiens DTW domain containing 2 (DTWD2), mRNA.	3										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CTCTTTCTGCGACTCCATGGC	0.706											OREG0016736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCDHAC2	56143	broad.mit.edu	37	5	140202968	140202968	+	Silent	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:140202968G>A	uc003lhl.2	+	0	1608	c.1608G>A	c.(1606-1608)gcG>gcA	p.A536A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.A536A|PCDHAC2_uc003lhj.1_Silent_p.A536A	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.677												
KIF4B	285643	broad.mit.edu	37	5	154393566	154393566	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:154393566C>G	uc010jih.1	+	0	307	c.147C>G	c.(145-147)ttC>ttG	p.F49L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	49	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATAAATCCTTCACCTACGATT	0.488												
STK10	6793	broad.mit.edu	37	5	171510086	171510086	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:171510086C>T	uc003mbo.1	-	10	1988	c.1688G>A	c.(1687-1689)cGc>cAc	p.R563H		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	563							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGTTCCTGGCGCCTGAAAGG	0.468												
CAGE1	285782	broad.mit.edu	37	6	7370288	7370288	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr6:7370288G>A	uc003mxl.2	-	5	2288	c.1757C>T	c.(1756-1758)aCg>aTg	p.T586M	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.T450M|CAGE1_uc003mxj.3_Missense_Mutation_p.T341M|CAGE1_uc003mxk.2_Missense_Mutation_p.T586M	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	586										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGAATGTGTCGTTTTTGTATC	0.378												
TJAP1	93643	broad.mit.edu	37	6	43472961	43472961	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr6:43472961C>T	uc003ovd.2	+	10	1418	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	TJAP1_uc003ovf.2_Missense_Mutation_p.P338S|TJAP1_uc003ove.2_Missense_Mutation_p.P338S|TJAP1_uc003ovc.2_Missense_Mutation_p.P338S|TJAP1_uc010jyp.2_Missense_Mutation_p.P307S|TJAP1_uc011dvh.1_Missense_Mutation_p.P338S|TJAP1_uc003ovg.2_Missense_Mutation_p.P214S|TJAP1_uc011dvi.1_Missense_Mutation_p.P348S|TJAP1_uc011dvj.2_Missense_Mutation_p.P148S|TJAP1_uc003ovi.2_Missense_Mutation_p.P214S	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	348						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGCCCCCTGCCCAACTGCAC	0.652												
POM121C	100101267	broad.mit.edu	37	7	75048122	75048122	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:75048122C>A	uc003udk.4	-	14	3806	c.2921G>T	c.(2920-2922)cGa>cTa	p.R974L		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	1216	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CAGTCGCTGTCGAGCCCCTGG	0.592												
COL1A2	1278	broad.mit.edu	37	7	94040399	94040399	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:94040399C>T	uc003ung.1	+	22	1754	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	428					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCAAGTGGCCCTGCTGGAGTC	0.507										HNSCC(75;0.22)		
FEZF1	389549	broad.mit.edu	37	7	121943310	121943310	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:121943310C>T	uc003vkd.3	-	1	931	c.857G>A	c.(856-858)aGa>aAa	p.R286K	FEZF1_uc003vkc.3_Missense_Mutation_p.R236K|LOC154860_uc010lko.2_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	286					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AACGAAGGGTCTGGCTCCTGT	0.468												
FGL1	2267	broad.mit.edu	37	8	17726236	17726236	+	Silent	SNP	G	G	A	rs142240316		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:17726236G>A	uc003wye.3	-	8	1416	c.750C>T	c.(748-750)taC>taT	p.Y250Y	FGL1_uc003wxx.3_Silent_p.Y200Y|FGL1_uc003wxy.3_Silent_p.Y200Y|FGL1_uc003wya.3_Silent_p.Y200Y|FGL1_uc003wyb.3_Silent_p.Y200Y	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	200	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding	p.Y200Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TATTCAACTCGTAGAAATTCT	0.383												
DCAF4L2	138009	broad.mit.edu	37	8	88886046	88886046	+	Missense_Mutation	SNP	T	T	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:88886046T>A	uc003ydz.3	-	0	251	c.154A>T	c.(154-156)Agc>Tgc	p.S52C		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	52										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGCATGCAGCTTACACGCAGC	0.507												
LRRC24	441381	broad.mit.edu	37	8	145749853	145749853	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:145749853A>G	uc003zdm.3	-	2	542	c.410T>C	c.(409-411)cTg>cCg	p.L137P	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	137						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAAATCCAGCAGCCGCGCCAG	0.662												
ANXA2	304	broad.mit.edu	37	9	33625120	33625120	+	Silent	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:33625120G>A	uc010mjx.3	+	0	898	c.849G>A	c.(847-849)acG>acA	p.T283T	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank|DJ439530_uc022bfr.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	283					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	GCAAGGGGACGCGAGATAAGG	0.483												
NUP188	23511	broad.mit.edu	37	9	131752466	131752466	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:131752466G>T	uc004bws.1	+	24	2623	c.2601G>T	c.(2599-2601)ttG>ttT	p.L867F	NUP188_uc004bwu.3_Missense_Mutation_p.L210F	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	867					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCCTGCTTTGCCACGTCTTG	0.448												
BRD3	8019	broad.mit.edu	37	9	136913570	136913570	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:136913570C>T	uc004cew.3	-	5	909	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	BRD3_uc004cex.2_Missense_Mutation_p.G241S	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	241						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGCTTCACGCCCTTTTTCTGC	0.627			T	C15orf55	lethal midline carcinoma of young people							
ARSE	415	broad.mit.edu	37	X	2867360	2867360	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:2867360G>A	uc011mhh.2	-	6	1375	c.914C>T	c.(913-915)gCg>gTg	p.A305V	ARSE_uc011mhi.2_Missense_Mutation_p.A226V|ARSE_uc004crc.4_Missense_Mutation_p.A280V			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	280					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGAAAGGACGCAACCTCCTG	0.488												
CACNA1F	778	broad.mit.edu	37	X	49065814	49065814	+	Silent	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:49065814G>T	uc004dnb.3	-	41	4956	c.4894C>A	c.(4894-4896)Cgg>Agg	p.R1632R	CACNA1F_uc010nip.3_Silent_p.R1621R	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1632					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGGGCCTGCCGCATCTCAGGA	0.572												
STARD8	9754	broad.mit.edu	37	X	67937331	67937331	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:67937331G>A	uc004dxb.3	+	5	789	c.575G>A	c.(574-576)gGc>gAc	p.G192D	STARD8_uc004dxa.3_Missense_Mutation_p.G112D|STARD8_uc004dxc.4_Missense_Mutation_p.G112D	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	112					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCCACCCAGGGCCAGGAGGGT	0.637												
CXorf57	55086	broad.mit.edu	37	X	105855563	105855563	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:105855563G>A	uc004emi.4	+	0	404	c.253G>A	c.(253-255)Gac>Aac	p.D85N	CXorf57_uc004emj.4_Missense_Mutation_p.D85N|CXorf57_uc004emh.2_Missense_Mutation_p.D85N	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	85										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TGAGCCACGCGACACGGTGCC	0.572												
ZNF280C	55609	broad.mit.edu	37	X	129354388	129354388	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:129354388G>A	uc004evm.3	-	12	1665	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y	ZNF280C_uc010nrf.2_Missense_Mutation_p.H439Y	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCGCCTTATGTTCAGCTTTC	0.383												
