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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PKNOX2	63876	broad.mit.edu	37	11	125280693	125280693	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:125280693C>T	uc001qbu.3	+	8	1051	c.737C>T	c.(736-738)cCg>cTg	p.P246L	PKNOX2_uc010saz.2_Missense_Mutation_p.P217L|PKNOX2_uc010sba.2_Missense_Mutation_p.P217L|PKNOX2_uc010sbb.2_Missense_Mutation_p.P182L|PKNOX2_uc001qbv.3_5'Flank	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	246						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TTATACCAACCGGTTACCATG	0.577000														97			20		0	0	0.069288	0	0
METTL17	64745	broad.mit.edu	37	14	21464719	21464719	+	Missense_Mutation	SNP	G	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr14:21464719G>T	uc001vyo.3	+	12	1311	c.1114G>T	c.(1114-1116)Gtg>Ttg	p.V372L	METTL17_uc001vym.3_Missense_Mutation_p.V372L|METTL17_uc001vyn.3_Missense_Mutation_p.V372L|SLC39A2_uc001vys.3_5'Flank|SLC39A2_uc001vyr.3_5'Flank	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	372					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GTTCTCTATGGTGATCCTTGC	0.463000														122			21		7.87624e-14	9.22097e-14	0.076483	1	0
PIGQ	9091	broad.mit.edu	37	16	624651	624651	+	Missense_Mutation	SNP	T	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr16:624651T>G	uc002cho.3	+	1	715	c.577T>G	c.(577-579)Tcg>Gcg	p.S193A	PIGQ_uc010bqw.3_Missense_Mutation_p.S193A|PIGQ_uc002chm.3_Missense_Mutation_p.S193A|PIGQ_uc002chn.3_Missense_Mutation_p.S193A|PIGQ_uc010uui.2_Missense_Mutation_p.S207A	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	193					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCACTGGCAGTCGGAGGGCGT	0.682000														12			5		0	0	0.058154	0	0
LAMA2	3908	broad.mit.edu	37	6	129670492	129670492	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr6:129670492G>A	uc021zfb.1	+	30	4591	c.4486G>A	c.(4486-4488)Gct>Act	p.A1496T	LAMA2_uc003qbn.3_Missense_Mutation_p.A1496T|LAMA2_uc003qbo.3_Missense_Mutation_p.A1496T	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1496	Laminin EGF-like 16.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCGCTGCACGGCTTGTCCACG	0.428000														18			3		0	0	0.009096	0	0
DSCAM	1826	broad.mit.edu	37	21	41447083	41447083	+	Missense_Mutation	SNP	T	C	C			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr21:41447083T>C	uc002yyq.1	-	26	5221	c.4769A>G	c.(4768-4770)aAc>aGc	p.N1590S	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1590					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAGCCCCTCGTTGGTCGTCAG	0.547000														163			5		0	0	0.021553	0	0
MYBPC1	4604	broad.mit.edu	37	12	102046970	102046970	+	Nonsense_Mutation	SNP	G	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:102046970G>T	uc001tii.3	+	15	1776	c.1636G>T	c.(1636-1638)Gag>Tag	p.E546*	MYBPC1_uc001tig.3_Nonsense_Mutation_p.E571*|MYBPC1_uc010svr.2_Nonsense_Mutation_p.E546*|MYBPC1_uc010svs.2_Nonsense_Mutation_p.E546*|MYBPC1_uc001tij.3_Nonsense_Mutation_p.E546*|MYBPC1_uc010svt.2_Nonsense_Mutation_p.E534*|MYBPC1_uc010svu.2_Nonsense_Mutation_p.E527*|MYBPC1_uc001tik.3_Nonsense_Mutation_p.E520*|MYBPC1_uc001tih.3_Nonsense_Mutation_p.E571*|MYBPC1_uc010svq.2_Nonsense_Mutation_p.E533*	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	546	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			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						GCTTCGTCTTGAGATCCCCAT	0.458000														28			3		6.4e-05	6.90337e-05	0.004672	1	0
FAM86C1	55199	broad.mit.edu	37	8	8092104	8092104	+	RNA	SNP	T	C	C			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr8:8092104T>C	uc011kwt.2	+	3		c.472T>C			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						GAGCTATTTGTTGGTATGAGA	0.592000														75			4		0	0	0.021553	0	0
RNPS1	10921	broad.mit.edu	37	16	2313224	2313224	+	Missense_Mutation	SNP	T	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr16:2313224T>G	uc002cpt.3	-	3	838	c.292A>C	c.(292-294)Agc>Cgc	p.S98R	RNPS1_uc002cpu.3_Missense_Mutation_p.S98R|RNPS1_uc002cpw.3_Missense_Mutation_p.S98R|RNPS1_uc002cpx.3_Missense_Mutation_p.S75R|RNPS1_uc010uwa.2_Non-coding_Transcript	NM_080594	NP_542161	Q15287	RNPS1_HUMAN	Homo sapiens RNA binding protein S1, serine-rich domain (RNPS1), transcript variant 2, mRNA.	98	Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Necessary for interactions with UPF2 and UPF3B and UPF2-dependent NMD.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						gaggaagagctggagccactg	0.617000														48			6		0	0	0.093190	0	0
SRGAP1	57522	broad.mit.edu	37	12	64377805	64377805	+	Missense_Mutation	SNP	T	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:64377805T>A	uc010ssp.1	+	1	202	c.146T>A	c.(145-147)cTg>cAg	p.L49Q	SRGAP1_uc001srt.3_Missense_Mutation_p.L49Q|SRGAP1_uc001srv.2_Missense_Mutation_p.L9Q	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	49	FCH.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTCCAGGATCTGCAAGATTTC	0.428000														70			10		0	0	0.069234	0	0
C15orf23	90417	broad.mit.edu	37	15	40685795	40685795	+	Missense_Mutation	SNP	G	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr15:40685795G>T	uc001zll.3	+	8	1063	c.948G>T	c.(946-948)atG>atT	p.M316I	C15orf23_uc001zlo.3_3'UTR|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_3'UTR	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	316						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		TATTAGAAATGTAAGAAGaag	0.423000														63			13		6.72482e-11	7.59509e-11	0.024245	1	0
SLC35E3	55508	broad.mit.edu	37	12	69140471	69140471	+	Missense_Mutation	SNP	T	C	C			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:69140471T>C	uc001suh.3	+	0	536	c.314T>C	c.(313-315)cTg>cCg	p.L105P		NM_018656	NP_061126	Q7Z769	S35E3_HUMAN	Homo sapiens solute carrier family 35, member E3 (SLC35E3), mRNA.	105						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			ACCTATCAGCTGGCCAAGGCC	0.562000														362			24		0	0	0.030593	0	0
SCMH1	22955	broad.mit.edu	37	1	41503104	41503104	+	Silent	SNP	G	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr1:41503104G>A	uc001cgo.3	-	12	1947	c.1578C>T	c.(1576-1578)caC>caT	p.H526H	SCMH1_uc010ojr.2_Silent_p.H368H|SCMH1_uc001cgp.3_Silent_p.H465H|SCMH1_uc001cgr.3_Silent_p.H465H|SCMH1_uc001cgq.3_Silent_p.H479H|SCMH1_uc001cgs.3_Silent_p.H536H|SCMH1_uc001cgt.3_Silent_p.H465H|SCMH1_uc010ojs.1_Non-coding_Transcript|LOC100507178_uc021omd.1_Intron	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	526					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GCAAGGGCCGGTGCCTTTGGG	0.587000														129			20		0	0	0.062417	0	0
DNAH3	55567	broad.mit.edu	37	16	21080893	21080893	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr16:21080893C>T	uc010vbe.2	-	22	3224	c.3224G>A	c.(3223-3225)cGc>cAc	p.R1075H		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1075	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1075P(3)|p.R1075C(1)|p.I1074F(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTCTTGTATGCGAATTAGCTT	0.453000														73			11		0	0	0.093190	0	0
PLK1S1	55857	broad.mit.edu	37	20	21143713	21143713	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr20:21143713C>T	uc002wsb.3	+	5	1398	c.1265C>T	c.(1264-1266)gCc>gTc	p.A422V	PLK1S1_uc010zsh.2_Missense_Mutation_p.A319V|PLK1S1_uc010zsi.2_Missense_Mutation_p.A289V|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	422					spindle organization	centrosome	protein kinase binding										GAAAGAGTTGCCCTATCCACT	0.433000														25			4		0	0	0.014758	0	0
OXSM	54995	broad.mit.edu	37	3	25832524	25832524	+	Missense_Mutation	SNP	C	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:25832524C>A	uc003cdn.3	+	1	120	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Missense_Mutation_p.L5M|OXSM_uc011awp.2_5'UTR	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	5					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCCAACTGCCTGCAAAATTT	0.368000														135			31		3.90053e-15	4.73988e-15	0.050027	1	0
NID2	22795	broad.mit.edu	37	14	52485956	52485956	+	Missense_Mutation	SNP	A	C	C			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr14:52485956A>C	uc001wzo.3	-	13	3085	c.2851T>G	c.(2851-2853)Tat>Gat	p.Y951D	NID2_uc010tqs.2_Missense_Mutation_p.Y903D|NID2_uc010tqt.1_Missense_Mutation_p.Y951D|NID2_uc001wzp.3_Missense_Mutation_p.Y951D	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	951	Thyroglobulin type-1 1.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGGTAGGCATACTGGGCCTGG	0.577000														66			20		0	0	0.083992	0	0
MUC2	4583	broad.mit.edu	37	11	1104253	1104253	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:1104253G>A	uc001lsx.1	+	50	8459	c.8432G>A	c.(8431-8433)gGg>gAg	p.G2811E		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	5177						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCATCTGGGGAGCGGGTGA	0.692000														70			13		0	0	0.024245	0	0
ZNF585B	92285	broad.mit.edu	37	19	37678072	37678072	+	Missense_Mutation	SNP	T	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr19:37678072T>A	uc002ofq.3	-	4	619	c.367A>T	c.(367-369)Att>Ttt	p.I123F	ZNF585B_uc002ofr.1_5'UTR	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGAATAAATTTTTTGATCT	0.373000														73			8		0	0	0.038147	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159638	18159638	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:18159638G>A	uc021qek.1	+	0	889	c.889G>A	c.(889-891)Gac>Aac	p.D297N	MRGPRX3_uc001mnu.3_Missense_Mutation_p.D297N	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	297						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGCTCTGCAGGACACGCCTGA	0.557000														140			8		0	0	0.058154	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598870	62598870	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr20:62598870G>A	uc002yhl.1	-	2	182	c.128C>T	c.(127-129)cCg>cTg	p.P43L		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ACGGACCACCGGCATCCCTGC	0.637000														260			54		0	0	0.048971	0	0
MYH7B	57644	broad.mit.edu	37	20	33577862	33577862	+	Silent	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr20:33577862C>T	uc002xbi.2	+	20	2256	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	MIR499A_uc021wcg.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	605	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAAGGATCCCCTGAATGAGAC	0.572000														354			10		0	0	0.069234	0	0
LOC284100	284100	broad.mit.edu	37	17	36214775	36214775	+	RNA	SNP	G	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr17:36214775G>T	uc002hom.1	-	1		c.184C>A			LOC284100_uc002hon.1_Non-coding_Transcript					Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene (LOC284100), non-coding RNA.									p.T41N(6)		endometrium(6)|kidney(1)	7						CTTGCCAGTGGTAGCTGCTGG	0.353000														9			9		2.62144e-13	3.03203e-13	0.047766	1	0
X97876	0	broad.mit.edu	37	9	66499867	66499867	+	Missense_Mutation	SNP	T	C	C			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr9:66499867T>C	uc004aee.1	+	0	677	c.677T>C	c.(676-678)cTg>cCg	p.L226P	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		TTCACTTTGCTGGTGAGCCAG	0.567000														87			9		0	0	0.049695	0	0
NOD1	10392	broad.mit.edu	37	7	30472766	30472766	+	Missense_Mutation	SNP	A	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr7:30472766A>G	uc003tav.3	-	11	3174	c.2651T>C	c.(2650-2652)gTg>gCg	p.V884A		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	884					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						ACTCTCTGCCACTTCATCGTT	0.393000														28			8		0	0	0.038147	0	0
WDR35	57539	broad.mit.edu	37	2	20175308	20175308	+	Missense_Mutation	SNP	T	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr2:20175308T>A	uc002rdi.3	-	5	661	c.553A>T	c.(553-555)Aat>Tat	p.N185Y	WDR35_uc002rdj.3_Missense_Mutation_p.N185Y|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	185										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCCTTGATTATCGTAAATG	0.318000														17			4		0	0	0.009096	0	0
COL4A6	1288	broad.mit.edu	37	X	107433650	107433650	+	Missense_Mutation	SNP	T	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chrX:107433650T>G	uc004enw.4	-	19	1504	c.1401A>C	c.(1399-1401)aaA>aaC	p.K467N	COL4A6_uc004env.4_Missense_Mutation_p.K466N|COL4A6_uc011msn.2_Missense_Mutation_p.K466N|COL4A6_uc010npk.3_Missense_Mutation_p.K466N	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	467	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTAGGTTTCCTTTTGGACCTT	0.443000									Alport syndrome with Diffuse Leiomyomatosis					53			30		0	0	0.064281	0	0
FBXO40	51725	broad.mit.edu	37	3	121341915	121341915	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:121341915C>T	uc003eeg.2	+	2	1849	c.1639C>T	c.(1639-1641)Ccg>Tcg	p.P547S		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	547					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		TGCCATTAAGCCGGAGGTTGC	0.493000														97			21		0	0	0.062417	0	0
DPPA3	359787	broad.mit.edu	37	14	36840695	36840695	+	Missense_Mutation	SNP	A	G	G	rs3742593	by1000genomes	TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr14:36840695A>G	uc001wtp.3	+	0	326	c.77A>G	c.(76-78)gAt>gGt	p.D26G		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	26						cytoplasm|nucleus		p.D26N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TCCCGGGACGATTCAGGGGCC	0.478000														5			2		0	0	0.004672	0	0
KIF1B	23095	broad.mit.edu	37	1	10342493	10342493	+	Missense_Mutation	SNP	T	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr1:10342493T>A	uc001aqx.4	+	14	1538	c.1336T>A	c.(1336-1338)Tgc>Agc	p.C446S	KIF1B_uc001aqv.4_Missense_Mutation_p.C400S|KIF1B_uc001aqw.4_Missense_Mutation_p.C400S|KIF1B_uc001aqy.3_Missense_Mutation_p.C420S|KIF1B_uc001aqz.3_Missense_Mutation_p.C446S|KIF1B_uc001ara.3_Missense_Mutation_p.C406S|KIF1B_uc001arb.3_Missense_Mutation_p.C432S	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	446					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCCATCTTCCTGCTCACTCAG	0.483000														105			21		0	0	0.055883	0	0
ZNF167	55888	broad.mit.edu	37	3	44612491	44612491	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:44612491C>T	uc003cnj.3	+	5	2305	c.1889C>T	c.(1888-1890)aCg>aTg	p.T630M	ZNF167_uc003cnk.3_Intron|ZNF167_uc010hin.3_Missense_Mutation_p.T630M|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	630					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T630M(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		AGACTTCACACGGGTGAAAAG	0.408000														39			3		0	0	0.004672	0	0
TMC7	79905	broad.mit.edu	37	16	19073098	19073098	+	Splice_Site	SNP	A	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr16:19073098A>T	uc002dfq.3	+	16	2237	c.2107_splice	c.e16-2	p.E703_splice	TMC7_uc010vap.2_Splice_Site_p.E593_splice	NM_024847	NP_001153836	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	703						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATTATTTTTTAGGAAAGTCGT	0.403000														64			13		0	0	0.093190	0	0
WDR62	284403	broad.mit.edu	37	19	36582178	36582178	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr19:36582178C>T	uc002odd.2	+	16	2202	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	WDR62_uc002odc.2_Missense_Mutation_p.S704L	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	704					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACTTTTACTCGGGCGAGTGC	0.582000														103			21		0	0	0.069288	0	0
CASP1	834	broad.mit.edu	37	11	104903803	104903803	+	Missense_Mutation	SNP	A	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:104903803A>T	uc001pim.4	-	2	325	c.325T>A	c.(325-327)Tct>Act	p.S109T	CASP1_uc001pig.3_Intron|CASP1_uc021qpq.1_Intron|CASP1_uc021qpr.1_Intron|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Missense_Mutation_p.S109T|CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Missense_Mutation_p.S109T|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Intron|CASP1_uc021qpu.1_Intron|CASP1_uc021qpv.1_Intron|CASP1_uc021qpw.1_Intron|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Missense_Mutation_p.S109T|CASP1_uc009yxj.3_Intron|CASP1_uc010rvk.2_Missense_Mutation_p.S70T|CASP1_uc010rvl.2_Missense_Mutation_p.S109T	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	109					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GGAAAGGAAGAAAGTACTCCT	0.358000														12			3		0	0	0.004672	0	0
METTL17	64745	broad.mit.edu	37	14	21464718	21464718	+	Missense_Mutation	SNP	G	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr14:21464718G>T	uc001vyo.3	+	12	1310	c.1113G>T	c.(1111-1113)atG>atT	p.M371I	METTL17_uc001vym.3_Missense_Mutation_p.M371I|METTL17_uc001vyn.3_Missense_Mutation_p.M371I|SLC39A2_uc001vys.3_5'Flank|SLC39A2_uc001vyr.3_5'Flank	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	371					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						AGTTCTCTATGGTGATCCTTG	0.463000														124			23		3.28513e-13	3.75443e-13	0.091800	1	0
BIRC3	330	broad.mit.edu	37	11	102206814	102206814	+	Missense_Mutation	SNP	T	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:102206814T>G	uc001pgx.3	+	6	4237	c.1442T>G	c.(1441-1443)gTt>gGt	p.V481G		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	481	CARD.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.D480N(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GAACATGATGTTATTAAACAG	0.353000			T	MALT1	MALT									45			10		0	0	0.080935	0	0
PTGFR	5737	broad.mit.edu	37	1	78959187	78959187	+	Silent	SNP	G	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr1:78959187G>A	uc001din.3	+	1	1025	c.759G>A	c.(757-759)gcG>gcA	p.A253A	PTGFR_uc001dim.3_Silent_p.A253A	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	253					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.A253A(3)|p.A253V(1)|p.A253E(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGCTCCTGGCGATAATGTGTG	0.393000														94			14		0	0	0.024245	0	0
STXBP5	134957	broad.mit.edu	37	6	147637421	147637421	+	Silent	SNP	G	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr6:147637421G>A	uc003qlz.3	+	15	1855	c.1680G>A	c.(1678-1680)gaG>gaA	p.E560E	STXBP5_uc010khz.2_Silent_p.E560E|STXBP5_uc003qly.3_Silent_p.E231E	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	560					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CGGAGGGTGAGCAGCCACCAC	0.458000														18			3		0	0	0.004672	0	0
GPBP1	65056	broad.mit.edu	37	5	56542173	56542173	+	Silent	SNP	T	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr5:56542173T>A	uc003jrk.4	+	5	603	c.546T>A	c.(544-546)atT>atA	p.I182I	GPBP1_uc003jrh.4_Silent_p.I175I|GPBP1_uc003jri.4_Silent_p.I4I|GPBP1_uc003jrj.4_Silent_p.I182I|GPBP1_uc021xyv.1_Silent_p.I4I	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TGCTGGTCATTAAGAAAGGTA	0.383000														51			9		0	0	0.058154	0	0
LRP2	4036	broad.mit.edu	37	2	170029726	170029726	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr2:170029726C>T	uc002ues.3	-	56	11236	c.11023G>A	c.(11023-11025)Gcc>Acc	p.A3675T		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3675					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGAGATGGGCAGAGCTCACT	0.468000														58			6		0	0	0.021553	0	0
SOX5	6660	broad.mit.edu	37	12	24102509	24102509	+	Missense_Mutation	SNP	C	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:24102509C>G	uc001rfw.3	-	0	129	c.27G>C	c.(25-27)caG>caC	p.Q9H	SOX5_uc001rfx.3_Intron|SOX5_uc001rfy.3_Intron|SOX5_uc010siv.2_Intron|SOX5_uc010siw.1_Intron|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.3_Missense_Mutation_p.Q9H	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	9					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTTCAAACTCCTGAGGTAAAT	0.433000														67			13		0	0	0.028581	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386990	8386990	+	RNA	SNP	C	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:8386990C>G	uc010sgk.2	-	3		c.466G>C								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		CCCCGACCAGCGACACGATGG	0.597000														79			5		0	0	0.038147	0	0
MYBPC1	4604	broad.mit.edu	37	12	102045044	102045044	+	Missense_Mutation	SNP	C	G	G	rs146314887	byFrequency	TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:102045044C>G	uc001tii.3	+	13	1464	c.1324C>G	c.(1324-1326)Cag>Gag	p.Q442E	MYBPC1_uc001tif.2_Missense_Mutation_p.Q455E|MYBPC1_uc001tig.3_Missense_Mutation_p.Q467E|MYBPC1_uc010svr.2_Missense_Mutation_p.Q442E|MYBPC1_uc010svs.2_Missense_Mutation_p.Q442E|MYBPC1_uc001tij.3_Missense_Mutation_p.Q442E|MYBPC1_uc010svt.2_Missense_Mutation_p.Q430E|MYBPC1_uc010svu.2_Missense_Mutation_p.Q423E|MYBPC1_uc001tik.3_Missense_Mutation_p.Q416E|MYBPC1_uc001tih.3_Missense_Mutation_p.Q467E|MYBPC1_uc010svq.2_Missense_Mutation_p.Q429E	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	442	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			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						TCTGACTGATCAGACTGTAAA	0.423000														42			3		0	0	0.004672	0	0
RYR2	6262	broad.mit.edu	37	1	237713899	237713899	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr1:237713899G>A	uc001hyl.1	+	26	3242	c.3122G>A	c.(3121-3123)cGa>cAa	p.R1041Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1041	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGATGACCGAACCAAGAAA	0.522000														15			3		0	0	0.004672	0	0
AGL	178	broad.mit.edu	37	1	100346330	100346330	+	Missense_Mutation	SNP	T	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr1:100346330T>A	uc001dsi.1	+	13	2278	c.1878T>A	c.(1876-1878)caT>caA	p.H626Q	AGL_uc001dsj.1_Missense_Mutation_p.H626Q|AGL_uc001dsk.1_Missense_Mutation_p.H626Q|AGL_uc001dsl.1_Missense_Mutation_p.H626Q|AGL_uc001dsm.1_Missense_Mutation_p.H610Q|AGL_uc001dsn.1_Missense_Mutation_p.H609Q	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	626					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATATTACGCATGATAATGAGT	0.388000														55			3		0	0	0.009096	0	0
CD27	939	broad.mit.edu	37	12	6554287	6554287	+	Missense_Mutation	SNP	T	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:6554287T>A	uc001qod.3	+	0	237	c.26T>A	c.(25-27)cTg>cAg	p.L9Q	CD27-AS1_uc001qob.2_Intron|CD27-AS1_uc009zel.1_Intron	NM_001242	NP_001233	P26842	CD27_HUMAN	Homo sapiens CD27 molecule (CD27), mRNA.	9					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						CCCTGGTGGCTGTGCGTTCTG	0.642000														32			5		0	0	0.021553	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188710	140188710	+	Silent	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr5:140188710C>T	uc003lhi.2	+	0	2039	c.1938C>T	c.(1936-1938)cgC>cgT	p.R646R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.R646R|PCDHAC2_uc011daa.2_Silent_p.R646R	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	657	Cadherin 6.				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)			CGCGCCACCGCCTACTGGTAC	0.682000														200			34		0	0	0.098360	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598869	62598869	+	Silent	SNP	C	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr20:62598869C>A	uc002yhl.1	-	2	183	c.129G>T	c.(127-129)ccG>ccT	p.P43P		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	43					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CACGGACCACCGGCATCCCTG	0.642000														263			57		2.37032e-18	2.91732e-18	0.048971	1	0
PROS1	5627	broad.mit.edu	37	3	93624723	93624723	+	Missense_Mutation	SNP	C	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:93624723C>G	uc003drb.4	-	5	847	c.506G>C	c.(505-507)gGa>gCa	p.G169A	PROS1_uc010hoo.3_Missense_Mutation_p.G38A|PROS1_uc003dqz.4_Missense_Mutation_p.G38A	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	169	EGF-like 2; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ACTGCAACCTCCATTTATATT	0.299000														215			41		0	0	0.111260	0	0
FOLH1B	219595	broad.mit.edu	37	11	89413808	89413808	+	Silent	SNP	A	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:89413808A>G	uc001pda.3	+	7	1006	c.480A>G	c.(478-480)ccA>ccG	p.P160P		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	160					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.P160P(6)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTGTACACCACTGATGTACA	0.294000														15			4		0	0	0.021553	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882137	228882137	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr2:228882137C>T	uc002vpq.2	-	6	3480	c.3433G>A	c.(3433-3435)Gag>Aag	p.E1145K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1145K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1145K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1145						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCAGTAACTCAAATCCTCTC	0.527000														108			22		0	0	0.062417	0	0
DCAF8	50717	broad.mit.edu	37	1	160253370	160253370	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr1:160253370C>T	uc001fvs.2	-	1	157	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	DCAF8_uc010pjc.1_Intron|DCAF8_uc021pbq.1_Missense_Mutation_p.A44T|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_Intron	NM_002857	NP_002848	Q5TAQ9	DCAF8_HUMAN	Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA.	0						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GCATCAGGGGCCGTGGTGGTA	0.562000														124			20		0	0	0.083992	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30938483	30938483	+	RNA	SNP	T	C	C	rs145453249	by1000genomes	TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr15:30938483T>C	uc010azv.1	+	10		c.1293T>C			ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript			Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCACCAGGCTTCTCCTTTCCC	0.463000														56			3		0	0	0.004672	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102769017	102769017	+	Nonsense_Mutation	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr7:102769017C>T	uc011klj.1	-	1	505	c.426G>A	c.(424-426)tgG>tgA	p.W142*	NAPEPLD_uc003vbd.2_Nonsense_Mutation_p.W69*|NAPEPLD_uc003vbc.2_Nonsense_Mutation_p.W69*|NAPEPLD_uc003vbe.2_Non-coding_Transcript|NAPEPLD_uc003vbf.3_Nonsense_Mutation_p.W69*	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	69					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TCCATGTTGGCCACGGATTCA	0.403000														52			4		0	0	0.009096	0	0
TMEM106A	113277	broad.mit.edu	37	17	41365849	41365849	+	Silent	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr17:41365849C>T	uc002idn.1	+	3	451	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	TMEM106A_uc010why.1_Silent_p.L24L|TMEM106A_uc010cze.1_Silent_p.L72L|TMEM106A_uc010whz.1_Silent_p.L72L	NM_145041	NP_659478	Q96A25	T106A_HUMAN	Homo sapiens transmembrane protein 106A (TMEM106A), mRNA.	72						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		CTCTCTAGAGCTGGAGAAGCA	0.552000														118			12		0	0	0.105934	0	0
RAB27A	5873	broad.mit.edu	37	15	55516128	55516128	+	Silent	SNP	T	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr15:55516128T>A	uc002aco.3	-	5	657	c.426A>T	c.(424-426)gtA>gtT	p.V142V	RAB27A_uc002acr.3_Silent_p.V142V|RAB27A_uc002acp.3_Silent_p.V142V|RAB27A_uc002acq.3_Silent_p.V142V	NM_183234	NP_899059	P51159	RB27A_HUMAN	Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 2, mRNA.	142					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CCTCTTTCACTACTCTCTGGT	0.398000														62			11		0	0	0.080935	0	0
SNX15	29907	broad.mit.edu	37	11	64802325	64802325	+	Missense_Mutation	SNP	T	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:64802325T>G	uc001oci.4	+	6	917	c.263T>G	c.(262-264)tTt>tGt	p.F88C	SNX15_uc001ock.3_Missense_Mutation_p.F88C	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	88	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GTAGGCCGGTTTGAAGCCTCA	0.622000														176			21		0	0	0.083992	0	0
WNK1	65125	broad.mit.edu	37	12	978188	978188	+	Missense_Mutation	SNP	T	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:978188T>A	uc021qss.1	+	8	3939	c.3296T>A	c.(3295-3297)tTc>tAc	p.F1099Y	WNK1_uc001qio.4_Intron|WNK1_uc021qst.1_Missense_Mutation_p.F1184Y|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron|WNK1_uc001qiq.3_Missense_Mutation_p.F398Y	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	846					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCCCCACTTTTCTTCTGTTTC	0.493000														225			45		0	0	0.048971	0	0
LRIG2	9860	broad.mit.edu	37	1	113657326	113657326	+	Silent	SNP	C	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr1:113657326C>A	uc001edf.1	+	14	2556	c.2358C>A	c.(2356-2358)tcC>tcA	p.S786S	LRIG2_uc009wgn.1_Silent_p.S683S	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	786						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TCATTTCATCCCCCAATTGTG	0.468000														82			10		9.31168e-06	1.0275e-05	0.105934	1	0
PBX2	5089	broad.mit.edu	37	6	32156280	32156280	+	Splice_Site	SNP	G	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr6:32156280G>T	uc003oav.1	-	3	567	c.296_splice	c.e3-1	p.G99_splice	PBX2_uc003oaw.3_Splice_Site_p.G99_splice	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	99							transcription factor binding	p.G99G(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATGCTGAGGCCTAGCATGC	0.612000														100			11		3.86212e-05	4.21322e-05	0.069234	1	0
MUC4	4585	broad.mit.edu	37	3	195511945	195511945	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:195511945G>A	uc021xjp.1	-	1	6662	c.6506C>T	c.(6505-6507)gCa>gTa	p.A2169V	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	948					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A2169V(4)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGT	0.572000														4			3		0	0	0.004672	0	0
APLP1	333	broad.mit.edu	37	19	36362560	36362560	+	Nonsense_Mutation	SNP	T	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr19:36362560T>A	uc002oce.3	+	4	722	c.584T>A	c.(583-585)tTa>tAa	p.L195*	APLP1_uc010xsz.2_Nonsense_Mutation_p.L156*|APLP1_uc002ocf.3_Nonsense_Mutation_p.L195*|APLP1_uc002ocg.3_Nonsense_Mutation_p.L98*|APLP1_uc010xta.2_Nonsense_Mutation_p.L189*	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	195					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCATGCTCTTACCCTGTGGC	0.642000														221			42		0	0	0.048971	0	0
ME2	4200	broad.mit.edu	37	18	48442562	48442562	+	Missense_Mutation	SNP	C	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr18:48442562C>G	uc002ley.3	+	4	676	c.417C>G	c.(415-417)gaC>gaG	p.D139E	ME2_uc010dpd.3_Missense_Mutation_p.D139E	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	139					malate metabolic process	mitochondrial matrix	NAD binding|electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CGATCTCAGACAGAGGTCATG	0.333000														28			3		0	0	0.009096	0	0
CUEDC2	79004	broad.mit.edu	37	10	104184514	104184514	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr10:104184514C>T	uc001kvn.2	-	2	261	c.110G>A	c.(109-111)gGg>gAg	p.G37E	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	Homo sapiens CUE domain containing 2 (CUEDC2), mRNA.	37						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTCCAGGACCCCAAGCACATA	0.592000														163			27		0	0	0.091800	0	0
HERPUD2	64224	broad.mit.edu	37	7	35674964	35674964	+	Missense_Mutation	SNP	G	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr7:35674964G>T	uc003tes.4	-	6	1381	c.722C>A	c.(721-723)cCa>cAa	p.P241Q	HERPUD2_uc003tet.3_Missense_Mutation_p.P241Q	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	241					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GTTTGGAGCTGGTGGGGGTTC	0.473000														84			16		2.23348e-06	2.49319e-06	0.028581	1	0
ACSBG2	81616	broad.mit.edu	37	19	6177251	6177251	+	Missense_Mutation	SNP	T	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr19:6177251T>G	uc002mef.1	+	7	977	c.750T>G	c.(748-750)atT>atG	p.I250M	ACSBG2_uc002mee.1_Missense_Mutation_p.I63M|ACSBG2_uc002meg.1_Missense_Mutation_p.I250M|ACSBG2_uc002meh.1_Missense_Mutation_p.I250M|ACSBG2_uc002mei.1_Missense_Mutation_p.I200M|ACSBG2_uc010xiz.1_Missense_Mutation_p.I250M	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	250					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity	p.I250M(6)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCACGTGGATTGCAGGAGCAG	0.433000														23			3		0	0	0.014758	0	0
PSMC3IP	29893	broad.mit.edu	37	17	40726133	40726133	+	Nonsense_Mutation	SNP	G	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr17:40726133G>T	uc002iai.2	-	3	364	c.321C>A	c.(319-321)tgC>tgA	p.C107*	PSMC3IP_uc002iaj.3_Nonsense_Mutation_p.C44*|PSMC3IP_uc010wgp.1_Non-coding_Transcript|PSMC3IP_uc002iak.2_Nonsense_Mutation_p.C107*|PSMC3IP_uc010wgn.1_Nonsense_Mutation_p.C28*|PSMC3IP_uc010wgo.1_Intron	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	Homo sapiens PSMC3 interacting protein (PSMC3IP), transcript variant 2, mRNA.	107					DNA recombination|meiosis	nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCATGTAGCGGCAGCTCTGCT	0.512000														23			7		0.000219431	0.000231488	0.020292	1	0
EPC1	80314	broad.mit.edu	37	10	32560793	32560793	+	Silent	SNP	A	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr10:32560793A>G	uc001iwg.1	-	13	2397	c.2127T>C	c.(2125-2127)caT>caC	p.H709H	EPC1_uc001iwi.3_Silent_p.H636H|EPC1_uc001iwh.1_Silent_p.H686H	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	709					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATGGACTTGTATGTACAAGTG	0.413000														28			4		0	0	0.014758	0	0
TMEM107	84314	broad.mit.edu	37	17	8079579	8079579	+	Missense_Mutation	SNP	G	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr17:8079579G>T	uc002gkh.4	-	0	136	c.26C>A	c.(25-27)cCc>cAc	p.P9H	TMEM107_uc002gkg.4_Missense_Mutation_p.P9H|TMEM107_uc002gki.4_Missense_Mutation_p.P9H|TMEM107_uc002gkj.4_Non-coding_Transcript|TMEM107_uc002gkk.2_Missense_Mutation_p.P9H	NM_032354	NP_115730	Q6UX40	TM107_HUMAN	Homo sapiens transmembrane protein 107 (TMEM107), transcript variant 1, mRNA.	9						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						GAAGCGAGAGGGCACAAGCCC	0.632000														108			16		1.45105e-14	1.74126e-14	0.038395	1	0
CSE1L	1434	broad.mit.edu	37	20	47675025	47675025	+	Missense_Mutation	SNP	C	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr20:47675025C>A	uc002xty.3	+	1	159	c.25C>A	c.(25-27)Caa>Aaa	p.Q9K	CSE1L_uc010zyg.2_5'UTR|CSE1L_uc010ghx.3_Missense_Mutation_p.Q9K	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	9					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TGCAAATCTGCAAACACTAAC	0.333000														175			19		1.55795e-14	1.84645e-14	0.062417	1	0
FCGR2A	2212	broad.mit.edu	37	1	161475799	161475804	+	Splice_Site	DEL	TGAGTA	-	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr1:161475799_161475804delTGAGTA	uc001gan.3	+	2	159	c.106_splice	c.e2+2	p.A36_splice	FCGR2A_uc001gam.3_Splice_Site_p.A36_splice|FCGR2A_uc021pcz.1_Splice_Site|FCGR2A_uc021pda.1_Splice_Site	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	36						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTCAAGCTGGTGAGTATGCCCTTTGC	0.471													---	1184	---	---	13	---					
PEX13	5194	broad.mit.edu	37	2	61275734	61275735	+	Frame_Shift_Ins	INS	-	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr2:61275734_61275735insG	uc002sau.4	+	3	1124_1125	c.1041_1042insG	c.(1039-1044)aaagttfs	p.K347fs		NM_002618	NP_002609	Q92968	PEX13_HUMAN	Homo sapiens peroxisomal biogenesis factor 13 (PEX13), mRNA.	347					cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			AATCAAGTAAAGTTTCCAAGCA	0.411													---	75	---	---	8	---					
VHL	7428	broad.mit.edu	37	3	10188203	10188204	+	Frame_Shift_Ins	INS	-	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:10188203_10188204insT	uc003bvc.3	+	1	559_560	c.346_347insT	c.(346-348)cttfs	p.L116fs	VHL_uc003bvd.3_Intron	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	116	Involved in binding to CCT complex.		L -> V (in VHLD).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.H115N(7)|p.L116fs*43(6)|p.H115Y(5)|p.?(3)|p.H115fs*44(3)|p.L116V(2)|p.H115fs*15(2)|p.L116fs*16(2)|p.W117fs*14(2)|p.H115fs*41(2)|p.H115fs*42(2)|p.L116L(1)|p.H115D(1)|p.W117fs*42(1)|p.H115P(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GATAGGTCACCTTTGGCTCTTC	0.530		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				---	372	---	---	81	---					
LAMB2	3913	broad.mit.edu	37	3	49167097	49167098	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:49167097_49167098delGG	uc003cwe.3	-	10	1756_1757	c.1457_1458delCC	c.(1456-1458)cccfs	p.P486fs	LAMB2_uc003cwf.1_Frame_Shift_Del_p.P486fs	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	486	Laminin EGF-like 4.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCCACTGTTGGGGTCACAAGG	0.559													---	119	---	---	12	---					
BAP1	8314	broad.mit.edu	37	3	52437889	52437889	+	Frame_Shift_Del	DEL	C	-	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:52437889delC	uc003ddx.3	-	12	1387	c.1272delG	c.(1270-1272)gggfs	p.G424fs	BAP1_uc003ddw.3_Non-coding_Transcript|BAP1_uc010hmg.3_Non-coding_Transcript|BAP1_uc010hmh.3_Non-coding_Transcript	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	424					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.K425fs*4(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCCTGGCTTCCCTGTTCCCT	0.557			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							---	274	---	---	62	---					
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	-	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr3:126178522delT	uc003eiv.3	-	6	2240	c.2186delA	c.(2185-2187)aagfs	p.K729fs	ZXDC_uc010hsh.3_Intron|ZXDC_uc003eix.2_3'UTR	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	729					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522													---	890	---	---	7	---					
KIAA1967	57805	broad.mit.edu	37	8	22474942	22474942	+	Frame_Shift_Del	DEL	G	-	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr8:22474942delG	uc003xch.3	+	14	2104	c.1855delG	c.(1855-1857)gggfs	p.G619fs	KIAA1967_uc003xci.3_Frame_Shift_Del_p.G619fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.G288fs	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	619					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GAAGGAGGATGGGCTTTTGCC	0.502													---	586	---	---	97	---					
PITRM1	10531	broad.mit.edu	37	10	3199645	3199645	+	Frame_Shift_Del	DEL	A	-	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr10:3199645delA	uc009xhv.2	-	11	1398	c.1329delT	c.(1327-1329)tttfs	p.F443fs	PITRM1_uc001igr.2_Frame_Shift_Del_p.F443fs|PITRM1_uc001igt.2_Frame_Shift_Del_p.F443fs|PITRM1_uc010qah.2_Frame_Shift_Del_p.F411fs|PITRM1_uc001igu.1_Frame_Shift_Del_p.F435fs|PITRM1_uc010qai.2_Frame_Shift_Del_p.F414fs	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	411					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GCATCAGCCCAAAGCTGGTAG	0.318													---	27	---	---	8	---					
TCF7L2	6934	broad.mit.edu	37	10	114925317	114925317	+	Frame_Shift_Del	DEL	A	-	-	rs61724286		TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr10:114925317delA	uc021pyi.1	+	14	1953	c.1446delA	c.(1444-1446)agafs	p.R482fs	TCF7L2_uc001lah.3_3'UTR|TCF7L2_uc010qro.2_Frame_Shift_Del_p.E418fs|TCF7L2_uc001lae.4_Frame_Shift_Del_p.R465fs|TCF7L2_uc010qrm.2_Frame_Shift_Del_p.E441fs|TCF7L2_uc010qrn.2_Frame_Shift_Del_p.E384fs|TCF7L2_uc021pyg.1_Frame_Shift_Del_p.R198fs|TCF7L2_uc021pyh.1_Frame_Shift_Del_p.E440fs|TCF7L2_uc021pyj.1_Frame_Shift_Del_p.E458fs|TCF7L2_uc021pyk.1_Frame_Shift_Del_p.R447fs|TCF7L2_uc021pyl.1_Frame_Shift_Del_p.E423fs|TCF7L2_uc010qrp.2_3'UTR|TCF7L2_uc021pym.1_Frame_Shift_Del_p.E414fs|TCF7L2_uc021pyn.1_Frame_Shift_Del_p.R470fs|TCF7L2_uc021pyo.1_Frame_Shift_Del_p.E446fs|TCF7L2_uc021pyp.1_Frame_Shift_Del_p.E437fs|TCF7L2_uc010qrq.2_3'UTR|TCF7L2_uc001lac.4_Frame_Shift_Del_p.R459fs|TCF7L2_uc010qrk.2_Frame_Shift_Del_p.E435fs|TCF7L2_uc001lad.4_Frame_Shift_Del_p.E431fs|TCF7L2_uc001lag.4_Frame_Shift_Del_p.E465fs|TCF7L2_uc001laf.4_Frame_Shift_Del_p.R442fs|TCF7L2_uc010qrl.2_Frame_Shift_Del_p.R442fs|TCF7L2_uc010qrr.2_Frame_Shift_Del_p.R397fs|TCF7L2_uc010qrs.2_Frame_Shift_Del_p.R353fs|TCF7L2_uc010qrt.2_Frame_Shift_Del_p.R353fs|TCF7L2_uc010qru.2_Frame_Shift_Del_p.E357fs|TCF7L2_uc010qrv.2_3'UTR|TCF7L2_uc010qrw.2_3'UTR|TCF7L2_uc010qrx.2_3'UTR	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	482	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TTTCTAGGAGAAAAAAAAAGT	0.522			T	VTI1A	colorectal								---	553	---	---	7	---					
GDPD5	81544	broad.mit.edu	37	11	75146590	75146591	+	Frame_Shift_Ins	INS	-	G	G			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr11:75146590_75146591insG	uc001owo.4	-	17	2316_2317	c.1779_1780insC	c.(1777-1782)ggcagcfs	p.G593fs	GDPD5_uc001owp.4_Frame_Shift_Ins_p.G593fs|GDPD5_uc001own.4_Frame_Shift_Ins_p.G348fs|GDPD5_uc009yuc.3_Frame_Shift_Ins_p.G455fs|GDPD5_uc009yud.3_Frame_Shift_Ins_p.G474fs	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	593					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	p.G593D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TTGGTGTGGCTGCCACCCCCTC	0.579													---	250	---	---	7	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	T	T			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr12:122812690_122812691insT	uc001ucg.2	-	16	3207_3208	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													---	416	---	---	8	---					
PHB	5245	broad.mit.edu	37	17	47486482	47486483	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr17:47486482_47486483delCT	uc002iox.1	-	4	504_505	c.431_432delAG	c.(430-432)gagfs	p.E144fs		NM_002634	NP_002625	P35232	PHB_HUMAN	Homo sapiens prohibitin (PHB), mRNA.	144					DNA replication|cellular response to interleukin-6|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			TGGAGACCAGCTCTCTCTGGGT	0.554													---	122	---	---	17	---					
SLC25A42	284439	broad.mit.edu	37	19	19221630	19221630	+	Frame_Shift_Del	DEL	T	-	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr19:19221630delT	uc002nlf.2	+	7	1058	c.902delT	c.(901-903)atcfs	p.I301fs		NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	301					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GCCGTGGGCATCAGCTTCACC	0.657													---	179	---	---	24	---					
ZNF808	388558	broad.mit.edu	37	19	53067676	53067677	+	RNA	INS	-	A	A			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr19:53067676_53067677insA	uc002pzq.2	+	3		c.4188_4189insA						Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCTTTCATTTCAAAAAAAAAAT	0.332													---	4	---	---	2	---					
TRIOBP	11078	broad.mit.edu	37	22	38129406	38129406	+	Frame_Shift_Del	DEL	C	-	-			TCGA-AL-3473-01A-01D-1252-08	TCGA-AL-3473-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23f15c01-fc74-46bf-8ba5-afc140084aa1	0e794ded-be71-4cd3-932d-121f1b81ecf2	g.chr22:38129406delC	uc003atr.3	+	7	4320	c.4049delC	c.(4048-4050)gccfs	p.A1350fs	TRIOBP_uc003atu.3_Frame_Shift_Del_p.A1178fs	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1350					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin 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)					TCCAGCCCTGCCCCCAGCAGG	0.697													---	4	---	---	2	---					
